genome_annotation_enum.mcf

Node: dcid:NucleicAcidEnum
name: "NucleicAcidEnum"
subClassOf: schema:Enumeration
description: "A (Adenine), T (Thymine), G (Guanine), C (Cytosine), and N (unknown) nucleic acid status."
typeOf: schema:Class

Node: dcid:NucleicAcidStatusA
name: "A"
typeOf: dcs:NucleicAcidEnum

Node: dcid:NucleicAcidStatusT
name: "T"
typeOf: dcs:NucleicAcidEnum

Node: dcid:NucleicAcidStatusG
name: "G"
typeOf: dcs:NucleicAcidEnum

Node: dcid:NucleicAcidStatusC
name: "C"
typeOf: dcs:NucleicAcidEnum

Node: dcid:NucleicAcidStatusN
name: "N"
typeOf: dcs:NucleicAcidEnum

Node: dcid:StrandOrientationEnum
name: "StrandOrientationEnum"
typeOf: schema:Class
subClassOf: schema:Enumeration
description: "Denotes if the gene is on the forward (+) or reverse (-) DNA strands."

Node: dcid:StrandOrientationPositive
name: "Positive"
typeOf: dcs:StrandOrientationEnum

Node: dcid:StrandOrientationNegative
name: "Negative"
typeOf: dcs:StrandOrientationEnum

Node: dcid:ExonFramesEnum
name: "ExonFramesEnum"
typeOf: schema:Class
subClassOf: schema:Enumeration
description: "Denotes the exon frame {0,1,2}, or none if no frame for the exon."

Node: dcid:ExonFrame0
name: "Frame0"
typeOf: dcs:ExonFramesEnum

Node: dcid:ExonFrame1
name: "Frame1"
typeOf: dcs:ExonFramesEnum

Node: dcid:ExonFrame2
name: "Frame2"
typeOf: dcs:ExonFramesEnum

Node: dcid:ExonFrameNone
name: "None"
typeOf: dcs:ExonFramesEnum

Node: dcid:NomenclatureStatusEnum
name: "NomenclatureStatuEnum"
typeOf: schema:Class
subClassOf: schema:Enumeration
description: "The status of the name from the nomenclature committee: official, interim, or NCBI-supplied."

Node: dcid:NomenclatureStatusOfficial
name: "Official"
typeOf: dcs:NomenclatureStatusEnum

Node: dcid:NomenclatureStatusInterim
name: "Interim"
typeOf: dcs:NomenclatureStatusEnum

Node: dcid:NomenclatureStatusNCBIsupplied
name: "NCBI Supplied"
typeOf: dcs:NomenclatureStatusEnum

Node: dcid:TypeOfGeneEnum
name: "TypeOfGeneEnum"
typeOf: schema:Class
subClassOf: schema:Enumeration
description: "The type of gene as specified by NCBI: biological-region, ncRNA, other, protein-coding, pseudo, rRNA, scRNA, snRNA, snoRNA, tRNA, miscRNA, or unknown."

Node: dcid:TypeOfGeneBiologicalRegion
name: "BiologicalRegion"
typeOf: dcs:TypeOfGeneEnum

Node: dcid:TypeOfGenencRNA
name: "ncRNA"
typeOf: dcs:TypeOfGeneEnum

Node: dcid:TypeOfGeneOther
name: "Other"
typeOf: dcs:TypeOfGeneEnum

Node: dcid:TypeOfGeneProteinCoding
name: "ProteinCoding"
typeOf: dcs:TypeOfGeneEnum

Node: dcid:TypeOfGenePseudo
name: "Pseudo"
typeOf: dcs:TypeOfGeneEnum

Node: dcid:TypeOfGenerRNA
name: "rRNA"
typeOf: dcs:TypeOfGeneEnum

Node: dcid:TypeOfGenescRNA
name: "scRNA"
typeOf: dcs:TypeOfGeneEnum

Node: dcid:TypeOfGenesnRNA
name: "snRNA"
typeOf: dcs:TypeOfGeneEnum

Node: dcid:TypeOfGenesnoRNA
name: "snoRNA"
typeOf: dcs:TypeOfGeneEnum

Node: dcid:TypeOfGenetRNA
name: "tRNA"
typeOf: dcs:TypeOfGeneEnum

Node: dcid:TypeOfGenemiscRNA
name: "miscRNA"
typeOf: dcs:TypeOfGeneEnum

Node: dcid:TypeOfGeneUnknown
name: "Unknown"
typeOf: dcs:TypeOfGeneEnum

Node: dcid:GeneticVariantMolTypeEnum
name: "GeneticVariantMolTypeEnum"
typeOf: schema:Class
subClassOf: schema:Enumeration
description: "Sample type from exemplar submitted GeneticVariants (cDNA, genomic, mitochondrial, or unknown)."

Node: dcid:GeneticVariantMolTypecDNA
name: "cDNA"
typeOf: dcs:GeneticVariantMolTypeEnum

Node: dcid:GeneticVariantMolTypeGenomic
name: "Genomic"
typeOf: dcs:GeneticVariantMolTypeEnum

Node: dcid:GeneticVariantMolTypeMitochondrial
name: "Mitochondrial"
typeOf: dcs:GeneticVariantMolTypeEnum

Node: dcid:GeneticVariantMolTypeUnknown
name: "Unknown"
typeOf: dcs:GeneticVariantMolTypeEnum

Node: dcid:GeneticVariantClassEnum
name: "GeneticVariantClassEnum"
typeOf: schema:Class
subClassOf: schema:Enumeration
description: "Class of variant: single nucleotide variant, deletion, insertion, in-del, named, mixed, mnp, het, microsatellite, inversion, copy number variation, variation, duplication, inversion, copy number loss, or copy number gain."

Node: dcid:GeneticVariantClassSingle
name: "Single Nucleotide Variant"
typeOf: dcs:GeneticVariantClassEnum

Node: dcid:GeneticVariantClassDeletion
name: "Deletion"
typeOf: dcs:GeneticVariantClassEnum

Node: dcid:GeneticVariantClassInsertion
name: "Insertion"
typeOf: dcs:GeneticVariantClassEnum

Node: dcid:GeneticVariantClassIn-del
name: "InDel"
typeOf: dcs:GeneticVariantClassEnum

Node: dcid:GeneticVariantClassNamed
name: "Named"
typeOf: dcs:GeneticVariantClassEnum

Node: dcid:GeneticVariantClassMixed
name: "Mixed"
typeOf: dcs:GeneticVariantClassEnum

Node: dcid:GeneticVariantClassMNP
name: "MNP"
typeOf: dcs:GeneticVariantClassEnum

Node: dcid:GeneticVariantClassHet
name: "Het"
typeOf: dcs:GeneticVariantClassEnum

Node: dcid:GeneticVariantClassMicrosatellite
name: "microsatellite"
typeOf: dcs:GeneticVariantClassEnum

Node: dcid:GeneticVariantClassInversion
name: "Inversion"
typeOf: dcs:GeneticVariantClassEnum

Node: dcid:GeneticVariantClassCopyNumberVariation
name: "CopyNumberVariation"
typeOf: dcs:GeneticVariantClassEnum

Node: dcid:GeneticVariantClassVariation
name: "Variation"
typeOf: dcs:GeneticVariantClassEnum

Node: dcid:GeneticVariantClassDuplication
name: "Duplication"
typeOf: dcs:GeneticVariantClassEnum

Node: dcid:GeneticVariantClassCopyNumberGain
name: "CopyNumberGain"
typeOf: dcs:GeneticVariantClassEnum

Node: dcid:GeneticVariantClassCopyNumberLoss
name: "Copy Number Loss"
typeOf: dcs:GeneticVariantClassEnum

Node: dcid:GeneticVariantValidationStatusEnum
name: "GeneticVariantValidationStatusEnum"
typeOf: schema:Class
subClassOf: schema:Enumeration
description: "Validation status of the genetic variant: cluster, frequency, 1000genomes, HapMap, 2hit-2allele, submitter, or unknown."

Node: dcid:GeneticVariantValidationStatusFrequency
name: "Frequency"
typeOf: dcs:GeneticVariantValidationStatusEnum

Node: dcid:GeneticVariantValidationStatusCluster
name: "Cluster"
typeOf: dcs:GeneticVariantValidationStatusEnum

Node: dcid:GeneticVariantValidationStatus1000genomes
name: "1000 Genomes"
typeOf: dcs:GeneticVariantValidationStatusEnum

Node: dcid:GeneticVariantValidationStatusHapMap
name: "HapMap"
typeOf: dcs:GeneticVariantValidationStatusEnum

Node: dcid:GeneticVariantValidationStatusUnknown
name: "uUknown"
typeOf: dcs:GeneticVariantValidationStatusEnum

Node: dcid:GeneticVariantValidationStatus2hit-2allele
name: "2hit-2allele"
typeOf: dcs:GeneticVariantValidationStatusEnum

Node: dcid:GeneticVariantValidationStatusSubmitter
name: "Submitter"
typeOf: dcs:GeneticVariantValidationStatusEnum

Node: dcid:GeneticVariantFunctionalCategoryEnum
name: "GeneticVariantFunctionalCategoryEnum"
typeOf: schema:Class
subClassOf: schema:Enumeration
description: "Functional category of the genetic variant (coding-synon, splice_5', missense, frameshift, near_gene_5', 3'_UTR, near_gene_3', nonsense, splice_3', intron, cds_reference, 5'_UTR, unknown, cds_indel, stop_loss, 5' UTR, or ncRNA.)"

Node: dcid:GeneticVariantFunctionalCategoryncRNA
name: "ncRNA"
typeOf: dcs:GeneticVariantFunctionalCategoryEnum

Node: dcid:GeneticVariantFunctionalCategoryCodingSynon
name: "Coding Synonomous"
typeOf: dcs:GeneticVariantFunctionalCategoryEnum

Node: dcid:GeneticVariantFunctionalCategorySplice5
name: "Splice 5'"
typeOf: dcs:GeneticVariantFunctionalCategoryEnum
description: "In donor splice site"

Node: dcid:GeneticVariantFunctionalCategoryMissense
name: "Missense"
typeOf: dcs:GeneticVariantFunctionalCategoryEnum

Node: dcid:GeneticVariantFunctionalCategoryFrameshift
name: "Frameshift"
typeOf: dcs:GeneticVariantFunctionalCategoryEnum

Node: dcid:GeneticVariantFunctionalCategoryNearGene5
name: "Near Gene 5'"
typeOf: dcs:GeneticVariantFunctionalCategoryEnum

Node: dcid:GeneticVariantFunctionalCategoryUTR3
name: "3' UTR"
typeOf: dcs:GeneticVariantFunctionalCategoryEnum

Node: dcid:GeneticVariantFunctionalCategoryUTR5
name: "5' UTR"
typeOf: dcs:GeneticVariantFunctionalCategoryEnum

Node: dcid:GeneticVariantFunctionalCategoryNearGene3
name: "Near Gene 3'"
typeOf: dcs:GeneticVariantFunctionalCategoryEnum

Node: dcid:GeneticVariantFunctionalCategoryNonsense
name: "Nonsense"
typeOf: dcs:GeneticVariantFunctionalCategoryEnum

Node: dcid:GeneticVariantFunctionalCategorySplice3
name: "Splice 3'"
typeOf: dcs:GeneticVariantFunctionalCategoryEnum
description: "In acceptor splice"

Node: dcid:GeneticVariantFunctionalCategoryIntron
name: "Intron"
typeOf: dcs:GeneticVariantFunctionalCategoryEnum

Node: dcid:GeneticVariantFunctionalCategoryCDSReference
name: "cds Reference"
typeOf: dcs:GeneticVariantFunctionalCategoryEnum

Node: dcid:GeneticVariantFunctionalCategoryUTR5
name: "5' UTR"
typeOf: dcs:GeneticVariantFunctionalCategoryEnum

Node: dcid:GeneticVariantFunctionalCategoryUnknown
name: "Unknown"
typeOf: dcs:GeneticVariantFunctionalCategoryEnum

Node: dcid:GeneticVariantFunctionalCategoryStopLoss
name: "Stop Loss"
typeOf: dcs:GeneticVariantFunctionalCategoryEnum

Node: dcid:GeneticVariantFunctionalCDSIndel
name: "cds Indel"
typeOf: dcs:GeneticVariantFunctionalCategoryEnum

Node: dcid:GeneticVariantLocTypeEnum
name: "GeneticVariantLocTypeEnum"
typeOf: schema:Class
subClassOf: schema:Enumeration
description: "Type of mapping inferred from size on reference; may not agree with class: between, exact, fuzzy, range, range deletion, range insertion, or range substitution."

Node: dcid:GeneticVariantLocTypeBetween
name: "Between"
typeOf: dcs:GeneticVariantLocTypeEnum

Node: dcid:GeneticVariantLocTypeExact
name: "Exact"
typeOf: dcs:GeneticVariantLocTypeEnum

Node: dcid:GeneticVariantLocTypeRange
name: "Range"
typeOf: dcs:GeneticVariantLocTypeEnum

Node: dcid:GeneticVariantLocTypeRangeDeletion
name: "RangeDeletion"
typeOf: dcs:GeneticVariantLocTypeEnum

Node: dcid:GeneticVariantLocTypeRangeInsertion
name: "RangeInsertion"
typeOf: dcs:GeneticVariantLocTypeEnum

Node: dcid:GeneticVariantLocTypeRangeSubstitution
name: "RangeSubstituation"
typeOf: dcs:GeneticVariantLocTypeEnum

Node: dcid:GeneticVariantLocTypeFuzzy
name: "Fuzzy"
typeOf: dcs:GeneticVariantLocTypeEnum

Node: dcid:GeneticVariantAlignmentQualityEnum
name: "GeneticVariantAlignmentQualityEnum"
typeOf: schema:Class
subClassOf: schema:Enumeration
description: "The quality of the alignment: unique mapping, non-unique, and many matches (1, 2, or 3+)."

Node: dcid:GeneticVariantAlignmentQualityOne
name: "Unique Mapping"
typeOf: dcs:GeneticVariantAlignmentQualityEnum

Node: dcid:GeneticVariantAlignmentQualityTwo
name: "Non-unique Mapping"
typeOf: dcs:GeneticVariantAlignmentQualityEnum

Node: dcid:GeneticVariantAlignmentQualityThree
name: "Many Matches"
typeOf: dcs:GeneticVariantAlignmentQualityEnum

Node: dcid:GeneticVariantAttributeEnum
name: "GeneticVariantAttributeEnum"
typeOf: schema:Class
subClassOf: schema:Enumeration
description: "Genetic variant attributes extracted from dbSNP's SNP_bitfield table: clinically associated, MAF >5% in some populations, MAF >5% in all populations, has OMIM OMIA, microattribute tpa, submitted by locus-specific database, genotype conflict, rs cluster non-overlapping alleles, observed mismatch, reference present, pharmGKB, published, 3D structure, submitter link out, other variant with exact mapping, assembly specific, mutant, validated, included in high density kit, genotypes available, 1000 Genomes Phase 1, 1000 Genomes Phase 3, included in clinical diagnostic assay, withdrawn by some not all submitters, or common SNP."

Node: dcid:GeneticVariantAttributeClinicallyAssociated
name: "Clinically Associated"
typeOf: dcs:GeneticVariantAttributeEnum
description: "Variant is Precious(Clinical,Pubmed Cited)."

Node: dcid:GeneticVariantAttributeMAF5SomePop
name: "MAF >5% In Some Populations"
typeOf: dcs:GeneticVariantAttributeEnum
description: ">5% minor allele frequency in 1+ populations."

Node: dcid:GeneticVariantAttributeMAF5AllPop
name: "MAF >5% In All Populations"
typeOf: dcs:GeneticVariantAttributeEnum
description: ">5% minor allele frequency in each and all populations."

Node: dcid:GeneticVariantAttributOMIMOMIA
name: "Has OMIM OMIA"
typeOf: dcs:GeneticVariantAttributeEnum
description: "Has OMIM/OMIA."

Node: dcid:GeneticVariantAttributeMicroattributeTPA
name: "Microattribute TPA"
typeOf: dcs:GeneticVariantAttributeEnum
description: "Microattribution/third-party annotation(TPA:GWAS,PAGE)."

Node: dcid:GeneticVariantAttrbuteSubmittedByLSDB
name: "Submitted By Locus Specific Database"
typeOf: dcs:GeneticVariantAttributeEnum
description: "Submitted from a locus-specific database."

Node: dcid:GeneticVariantAttributeGenotypeConflict
name: "Genotype Conflict"
typeOf: dcs:GeneticVariantAttributeEnum
description: "Has Assembly conflict. This is for non-unique and many matches that maps to different chromosomes on different assemblies."

Node: dcid:GeneticVariantAttributersCluster
name: "rs Cluster Non-overlapping Alleles"
typeOf: dcs:GeneticVariantAttributeEnum
description: "Rs cluster has non-overlapping allele sets. True when rs set has more than 2 alleles from different submissions and these sets share no alleles in common."

Node: dcid:GeneticVariantAttributeObservedMismatch
name: "Observed Mismatch"
typeOf: dcs:GeneticVariantAttributeEnum
description: "Contig allele not present in variant allele list. The reference sequence allele at the mapped position is not present in the variant allele list, adjusted for orientation."

Node: dcid:GeneticVariantAttributeReferencePresent
name: "Reference Present"
typeOf: dcs:GeneticVariantAttributeEnum
description: "A coding region variation where one allele in the set is identical to the reference sequence."

Node: dcid:GeneticVariantAttributePharmGKB
name: "PharmGKB"
typeOf: dcs:GeneticVariantAttributeEnum
description: "Provisional Third Party Annotation(TPA) (currently rs from PHARMGKB who will give phenotype data)."

Node: dcid:GeneticVariantAttributePublished
name: "Published"
typeOf: dcs:GeneticVariantAttributeEnum
description: "Links exist to PubMed Central article."

Node: dcid:GeneticVariantAttribute3DStructure
name: "3D Structure"
typeOf: dcs:GeneticVariantAttributeEnum
description: "Has 3D structure - SNP3D table."

Node: dcid:GeneticVariantAttributeSubmitterLinkOut
name: "Submitter Link Out"
typeOf: dcs:GeneticVariantAttributeEnum
description: "Has SubmitterLinkOut - From SNP->SubSNP->Batch.link_out."

Node: dcid:GeneticVariantAttributeOtherVariant
name: "Other Variant With Exact Mapping"
typeOf: dcs:GeneticVariantAttributeEnum
description: "Has other variant with exactly the same set of mapped positions on NCBI reference assembly."

Node: dcid:GeneticVariantAttributeAssembly
name: "Assembly Specific"
typeOf: dcs:GeneticVariantAttributeEnum
description: "Is Assembly specific. This is set if the variant only maps to one assembly."

Node: dcid:GeneticVariantAttributeMutant
name: "Mutant"
typeOf: dcs:GeneticVariantAttributeEnum
description: "Is mutation (journal citation, explicit fact): a low frequency variation that is cited in journal and other reputable sources."

Node: dcid:GeneticVariantAttributeValidated
name: "Validated"
typeOf: dcs:GeneticVariantAttributeEnum
description: "Is Validated. This bit is set if the variant has 2+ minor allele count based on frequency or genotype data."

Node: dcid:GeneticVariantAttributeHighDensityKit
name: "Included In High Density Kit(s)"
typeOf: dcs:GeneticVariantAttributeEnum
description: "Marker is on high density genotyping kit (50K density or greater). The variant may have phenotype associations present in dbGaP."

Node: dcid:GeneticVariantAttributeGenotypesAvailable
name: "Genotypes Available"
typeOf: dcs:GeneticVariantAttributeEnum
description: "Genotypes available. The variant has individual genotype (in SubInd table)."

Node: dcid:GeneticVariantAttribute1000GenomesPhase1
name: "1000 Genomes Phase 1"
typeOf: dcs:GeneticVariantAttributeEnum
description: "1000 Genome phase 1 (incl. June Interim phase 1)."

Node: dcid:GeneticVariantAttribute1000GenomesPhase3
name: "1000 Genomes Phase 3"
typeOf: dcs:GeneticVariantAttributeEnum
description: "1000 Genome phase 3."

Node: dcid:GeneticVariantAttributeSomeWithdrawn
name: "Withdrawn by some but not all submitters"
typeOf: dcs:GeneticVariantAttributeEnum
description: "Is Withdrawn by submitter If one member ss is withdrawn by submitter, then this bit is set. If all member ss' are withdrawn, then the rs is deleted to SNPHistory."

Node: dcid:GeneticVariantAttributeClinicalDiagnosticAssay
name: "Included In Clinical Diagnostic Kit(s)"
typeOf: dcs:GeneticVariantAttributeEnum
description: "Variation is interrogated in a clinical diagnostic assay."

Node: dcid:GeneticVariantAttributeCommonSNP
name: "Common SNP"
typeOf: dcs:GeneticVariantAttributeEnum
description: "RS is a common SNP. A common SNP is one that has at least one 1000Genomes population with a minor allele of frequency >= 1% and for which 2 or more founders contribute to that minor allele frequency."

Node: dcid:GeneticVariantExceptionEnum
name: "GeneticVariantExceptionEnum"
typeOf: schema:Class
subClassOf: schema:Enumeration
description: "Unusual conditions noted by UCSC that may indicate a problem with the data: RefAlleleMismatch, RefAlleleRevComp, DuplicateObserved, MixedObserved, FlankMismatchGenomeLonger, FlankMismatchGenomeEqual, FlankMismatchGenomeShorter, NamedDeletionZeroSpan, NamedInsertionNonzeroSpan, SingleClassLongerSpan, SingleClassZeroSpan, SingleClassTriAllelic, SingleClassQuadAllelic, ObservedWrongFormat, ObservedTooLong, ObservedContainsIupac, 'ObservedMismatch, MultipleAlignments, NonIntegerChromCount, AlleleFreqSumNot1, SingleAlleleFreq, or InconsistentAlleles."

Node: dcid:GeneticVariantExceptionRefAlleleMismatch
name: "Reference Allele Mismatch"
typeOf: dcs:GeneticVariantExceptionEnum

Node: dcid:GeneticVariantExceptionRefAlleleRevComp
name: "Reference Allele Reverse Complement"
typeOf: dcs:GeneticVariantExceptionEnum

Node: dcid:GeneticVariantExceptionDuplicateObserved
name: "Duplicate Observed"
typeOf: dcs:GeneticVariantExceptionEnum

Node: dcid:GeneticVariantExceptionMixedObserved
name: "Mixed Observed"
typeOf: dcs:GeneticVariantExceptionEnum

Node: dcid:GeneticVariantExceptionFlankMismatchGenomeLonger
name: "Flank Mismatch Genome Longer"
typeOf: dcs:GeneticVariantExceptionEnum

Node: dcid:GeneticVariantExceptionFlankMismatchGenomeEqual
name: "Flank Mismatch Genome Equal"
typeOf: dcs:GeneticVariantExceptionEnum

Node: dcid:GeneticVariantExceptionFlankMismatchGenomeShorter
name: "Flank Mismatch Genome Shorter"
typeOf: dcs:GeneticVariantExceptionEnum

Node: dcid:GeneticVariantExceptionNamedDeletionZeroSpan
name: "Named Deletion Zero Span"
typeOf: dcs:GeneticVariantExceptionEnum

Node: dcid:GeneticVariantExceptionNamedInsertionNonzeroSpan
name: "Named Insertion Non-Zero Span"
typeOf: dcs:GeneticVariantExceptionEnum

Node: dcid:GeneticVariantExceptionSingleClassLongerSpan
name: "Single Class Longer Span"
typeOf: dcs:GeneticVariantExceptionEnum

Node: dcid:GeneticVariantExceptionSingleClassZeroSpan
name: "Single Class Zero Span"
typeOf: dcs:GeneticVariantExceptionEnum

Node: dcid:GeneticVariantExceptionSingleClassTriAllelic
name: "Single Class Tri-allelic"
typeOf: dcs:GeneticVariantExceptionEnum

Node: dcid:GeneticVariantExceptionSingleClassQuadAllelic
name: "Single Class Quad-allelic"
typeOf: dcs:GeneticVariantExceptionEnum

Node: dcid:GeneticVariantExceptionObservedWrongFormat
name: "Observed Wrong Format"
typeOf: dcs:GeneticVariantExceptionEnum

Node: dcid:GeneticVariantExceptionObservedTooLong
name: "Observed Too Long"
typeOf: dcs:GeneticVariantExceptionEnum

Node: dcid:GeneticVariantExceptionObservedContainsIUPAC
name: "Observed Contains IUPAC"
typeOf: dcs:GeneticVariantExceptionEnum

Node: dcid:GeneticVariantExceptionObservedMismatch
name: "Observed Mismatch"
typeOf: dcs:GeneticVariantExceptionEnum

Node: dcid:GeneticVariantExceptionMultipleAlignments
name: "Multiple Alignments"
typeOf: dcs:GeneticVariantExceptionEnum

Node: dcid:GeneticVariantExceptionNonIntegerChromCount
name: "Non-integer Chomosome Count"
typeOf: dcs:GeneticVariantExceptionEnum

Node: dcid:GeneticVariantExceptionAlleleFreqSumNot1
name: "Allele Frequency Sum Not 1"
typeOf: dcs:GeneticVariantExceptionEnum

Node: dcid:GeneticVariantExceptionSingleAlleleFreq
name: "Single Allele Frequency"
typeOf: dcs:GeneticVariantExceptionEnum

Node: dcid:GeneticVariantExceptionInconsistentAlleles
name: "Inconsistent Alleles"
typeOf: dcs:GeneticVariantExceptionEnum
description: "Inconsistent genotype submission for at least one sample."

Node: dcid:VariantAlleleOriginEnum
name: "VariantAlleleOriginEnum"
typeOf: schema:Class
subClassOf: schema:Enumeration
description: "Variant Allele Origin: unspecified, germline, somatic, both, inherited, paternal, maternal, uni-parental, bi-parental, not_tested, tested_inconclusive, de-novo, or other."

Node: dcid:VariantAlleleOriginUnspecified
name: "Unspecified"
typeOf: dcs:VariantAlleleOriginEnum

Node: dcid:VariantAlleleOriginGermline
name: "Germline"
typeOf: dcs:VariantAlleleOriginEnum

Node: dcid:VariantAlleleOriginSomatic
name: "Somatic"
typeOf: dcs:VariantAlleleOriginEnum

Node: dcid:VariantAlleleOriginBoth
name: "Both"
typeOf: dcs:VariantAlleleOriginEnum

Node: dcid:VariantAlleleOriginInherited
name: "Inherited"
typeOf: dcs:VariantAlleleOriginEnum

Node: dcid:VariantAlleleOriginPaternal
name: "Paternal"
typeOf: dcs:VariantAlleleOriginEnum

Node: dcid:VariantAlleleOriginMaternal
name: "Maternal"
typeOf: dcs:VariantAlleleOriginEnum

Node: dcid:VariantAlleleOriginDeNovo
name: "de novo"
typeOf: dcs:VariantAlleleOriginEnum

Node: dcid:VariantAlleleOriginBiParental
name: "Bi-parental"
typeOf: dcs:VariantAlleleOriginEnum

Node: dcid:VariantAlleleOriginUniParental
name: "Uni-parental"
typeOf: dcs:VariantAlleleOriginEnum

Node: dcid:VariantAlleleOriginNotTested
name: "Not Tested"
typeOf: dcs:VariantAlleleOriginEnum

Node: dcid:VariantAlleleOriginTestedInconclusive
name: "Tested Inconclusive"
typeOf: dcs:VariantAlleleOriginEnum

Node: dcid:VariantAlleleOriginOther
name: "Other"
typeOf: dcs:VariantAlleleOriginEnum

Node: dcid:VariantSuspectReasonCodesEnum
name: "VariantSuspectReasonCodesEnum"
typeOf: schema:Class
subClassOf: schema:Enumeration
description: "Variant Suspect Reason Codes: unspecified, Paralog, byEST, oldAlign, Para_EST, 1kg_failed, or other."

Node: dcid:VariantSuspectReasonCodesUnspecified
name: "Unspecified"
typeOf: dcs:VariantSuspectReasonCodesEnum

Node: dcid:VariantSuspectReasonCodesParalog
name: "Paralog"
typeOf: dcs:VariantSuspectReasonCodesEnum

Node: dcid:VariantSuspectReasonCodesByEST
name: "ByEST"
typeOf: dcs:VariantSuspectReasonCodesEnum

Node: dcid:VariantSuspectReasonCodesOldAlign
name: "OldAlign"
typeOf: dcs:VariantSuspectReasonCodesEnum

Node: dcid:VariantSuspectReasonCodesParaEST
name: "ParaEST"
typeOf: dcs:VariantSuspectReasonCodesEnum

Node: dcid:VariantSuspectReasonCodes1kgFailed
name: "1kgFailed"
typeOf: dcs:VariantSuspectReasonCodesEnum

Node: dcid:VariantSuspectReasonCodesOther
name: "Other"
typeOf: dcs:VariantSuspectReasonCodesEnum

Node: dcid:ClinVarReviewStatusEnum
name: "ClinVarReviewStatusEnum"
typeOf: schema:Class
subClassOf: schema:Enumeration
description: "ClinVar review status: no assertion criteria provided, reviewed by expert panel, conflicting interpretations, criteria provided, non interpretation for the single variant, practice guideline, no conflicts, multiple submitters, or single_submitter."

Node: dcid:ClinVarReviewStatusNoCriteria
name: "No Assertion Criteria Provided"
typeOf: dcs:ClinVarReviewStatusEnum

Node: dcid:ClinVarReviewStatusReviewed
name: "Reviewed By Expert Panel"
typeOf: dcs:ClinVarReviewStatusEnum

Node: dcid:ClinVarReviewStatusConflictingInterpretations
name: "Conflicting Interpretations"
typeOf: dcs:ClinVarReviewStatusEnum

Node: dcid:ClinVarReviewStatusCriteriaProvided
name: "Criteria Provided"
typeOf: dcs:ClinVarReviewStatusEnum

Node: dcid:ClinVarReviewStatusNoInterpretation
name: "Non-interpretation For The Single Variant"
typeOf: dcs:ClinVarReviewStatusEnum

Node: dcid:ClinVarReviewStatusPracticeGuideline
name: "Practice Guideline"
typeOf: dcs:ClinVarReviewStatusEnum

Node: dcid:ClinVarReviewStatusNoConflicts
name: "No Conflicts"
typeOf: dcs:ClinVarReviewStatusEnum

Node: dcid:ClinVarReviewStatusMultipleSubmitters
name: "Multiple Submitters"
typeOf: dcs:ClinVarReviewStatusEnum

Node: dcid:ClinVarReviewStatusSingleSubmitter
name: "Single Submitter"
typeOf: dcs:ClinVarReviewStatusEnum

Node: dcid:ClinSigEnum
name: "ClinSigEnum"
typeOf: schema:Class
subClassOf: schema:Enumeration
description: "Clinical significance for this single variant: other, affects, uncertain significance, pathogenic, risk_factor, benign, conflicting interpretations of pathogenicity, association, likely pathogenic, protective, likely benign, not provided, association not found, drug response, pathogenic/likely pathogenic, benign/likely benign, unknown, untested, or histocompatibility."

Node: dcid:ClinSigOther
name: "Other"
typeOf: dcs:ClinSigEnum

Node: dcid:ClinSigAffects
name: "Affects"
typeOf: dcs:ClinSigEnum

Node: dcid:ClinSigUncertain
name: "Uncertain Significance"
typeOf: dcs:ClinSigEnum

Node: dcid:ClinSigPathogenic
name: "Pathogenic"
typeOf: dcs:ClinSigEnum

Node: dcid:ClinSigRiskFactor
name: "Risk Factor"
typeOf: dcs:ClinSigEnum

Node: dcid:ClinSigBenign
name: "Benign"
typeOf: dcs:ClinSigEnum

Node: dcid:ClinSigConflictingPathogenicity
name: "Conflicting Interpretations Of Pathogenicity"
typeOf: dcs:ClinSigEnum

Node: dcid:ClinSigAssociation
name: "Association"
typeOf: dcs:ClinSigEnum

Node: dcid:ClinSigLikelyPathogenic
name: "Likely Pathogenic"
typeOf: dcs:ClinSigEnum

Node: dcid:ClinSigProtective
name: "Protective"
typeOf: dcs:ClinSigEnum

Node: dcid:ClinSigLikelyBenign
name: "Likely Benign"
typeOf: dcs:ClinSigEnum

Node: dcid:ClinSigNotProvided
name: "Not Provided"
typeOf: dcs:ClinSigEnum

Node: dcid:ClinSigAssociationNotFound
name: "Association Not Found"
typeOf: dcs:ClinSigEnum

Node: dcid:ClinSigDrugResponse
name: "Drug Response"
typeOf: dcs:ClinSigEnum

Node: dcid:ClinSigPathogenicLikelyPathogenic
name: "Pathogenic/Likely Pathogenic"
typeOf: dcs:ClinSigEnum

Node: dcid:ClinSigBenignLikelyBenign
name: "Benign/Likely Benign"
typeOf: dcs:ClinSigEnum

Node: dcid:ClinSigUnknown
name: "Unknown"
typeOf: dcs:ClinSigEnum

Node: dcid:ClinSigUntested
name: "Untested"
typeOf: dcs:ClinSigEnum

Node: dcid:ClinSigHistocompatability
name: "Histocompatibility"
typeOf: dcs:ClinSigEnum

Node: dcid:VariationTypeEnum
name: "VariationTypeEnum"
typeOf: schema:Class
subClassOf: schema:Enumeration
description: "Variation type of alternate allele."

Node: dcid:VariationTypeCNV
name: "Copy Number Variable Region"
typeOf: dcs:VariationTypeEnum

Node: dcid:VariationTypeDEL
name: "Deletion Relative To The Reference"
typeOf: dcs:VariationTypeEnum

Node: dcid:VariationTypeDUP
name: "Region of Elevated Copy Number Relative to the Reference"
typeOf: dcs:VariationTypeEnum

Node: dcid:VariationTypeINS
name: "Insertion of Sequence Relative to the Reference"
typeOf: dcs:VariationTypeEnum

Node: dcid:VariationTypeINV
name: "Inversion of Reference Sequence"
typeOf: dcs:VariationTypeEnum

Node: dcid:VariationTypeDupTandem
name: "Tandem Duplication"
typeOf: dcs:VariationTypeEnum

Node: dcid:VariationTypeInsertME
name: "Insertion of a Mobile Element Relative to the Reference"
typeOf: dcs:VariationTypeEnum

Node: dcid:VariationTypeDelME
name: "Deletion of a Mobile Element Relative to the Reference"
typeOf: dcs:VariationTypeEnum

Node: dcid:VariationTypeInsertMEALU
name: "Insertion of an Alu Mobile Element Relative to the Reference"
typeOf: dcs:VariationTypeEnum

Node: dcid:VariationTypeInsertDelALU
name: "DeletionOfAnAluMobileElementRelativeToTheReference"
typeOf: dcs:VariationTypeEnum

Node: dcid:VariationTypeInsertNovel
name: "Insertion of Sequence that Does Not Map to the Reference"
typeOf: dcs:VariationTypeEnum

Node: dcid:VariationTypeSNV
name: "Single Nucleotide Variation"
typeOf: dcs:VariationTypeEnum

Node: dcid:VariationTypeMNV
name: "Multiple Nucleotide Variations"
typeOf: dcs:VariationTypeEnum

Node: dcid:VariationTypeDIV
name: "Deletion Insertion Variation"
typeOf: dcs:VariationTypeEnum

Node: dcid:VariationTypeHeterozygous
name: "Heterozygous"
typeOf: dcs:VariationTypeEnum
description: "Variable, but undefined at nucleotide level."

Node: dcid:VariationTypeSTR
name: "Short Tandem (microsatellite) Repeat"
typeOf: dcs:VariationTypeEnum

Node: dcid:VariationTypeNamed
name: "Insertion/deletion variation of named repetitive element"
typeOf: dcs:VariationTypeEnum

Node: dcid:VariationTypeNoVariation
name: "No Variation"
typeOf: dcs:VariationTypeEnum
description: "Sequence scanned for variation, but none observed."

Node: dcid:VariationTypeMixed
name: "Mixed"
typeOf: dcs:VariationTypeEnum
description: "Cluster contains submissions from 2 or more allelic classes."

Node: dcid:VariationTypeException
name: "Exception"
typeOf: dcs:VariationTypeEnum

Node: dcid:VariationTypeINDEL
name: "insertion-deletion"
typeOf: dcs:VariationTypeEnum

Node: dcid:GenVarSourceEnum
name: "GenVarSourceEnum"
typeOf: schema:Class
subClassOf: schema:Enumeration
description: "Sources for observations of genetic variant allele and population frequencies: GenVarSourceUCSCGenomeBrowser, GenVarSourceTheHumanGeneomeProject, GenVarSourceExomeAggregationConsortium, GenVarSourceGOExomeSequencingProject, GenVarSourceTOPMed, GenVarSource1000Genomes, GenVarSourceGnomAD, GenVarSourceGnomADexomes, or GenVarSourcePAGEstudy."

Node: dcid:GenVarSourceUCSCGenomeBrowser
name: " UCSC Genome Browser"
url: "https://genome.ucsc.edu/"
typeOf: dcs:GenVarSourceEnum

Node: dcid:GenVarSourceTheHumanGenomeProject
name: "The Human Genome Project"
url: "https://www.genome.gov/human-genome-project"
typeOf: dcs:GenVarSourceEnum

Node: dcid:GenVarSourceExomeAggregationConsortium
name: "Exome Aggregation Consortium"
url: "http://exac.broadinstitute.org/"
typeOf: dcs:GenVarSourceEnum

Node: dcid:GenVarSourceGOExomeSequencingProject
name: "GO Exome Sequencing Project"
url: "https://esp.gs.washington.edu/drupal/"
typeOf: dcs:GenVarSourceEnum

Node: dcid:GenVarSourceTOPMed
name: "Trans-Omics for Precision Medicine (TOPMed) Program"
url: "https://www.nhlbi.nih.gov/science/trans-omics-precision-medicine-topmed-program"
typeOf: dcs:GenVarSourceEnum

Node: dcid:GenVarSource1000Genomes
name: "1000 Genomes Project"
url: "https://www.internationalgenome.org/"
typeOf: dcs:GenVarSourceEnum

Node: dcid:GenVarSourceGnomAD
name: "Genome Aggregation Database"
url: "https://www.gnomad.broadinstitute.org/"
typeOf: dcs:GenVarSourceEnum

Node: dcid:GenVarSourceGnomADexomes
name: "Genome Aggregation Database Exams"
url: "https://www.gnomad.broadinstitute.org/"
typeOf: dcs:GenVarSourceEnum

Node: dcid:GenVarSourcePAGEStudy
name: "Population Architecture using Genomics and Epidemiology Study"
url: "https://www.pagestudy.org/"
typeOf: dcs:GenVarSourceEnum

Node: dcid:GenVarSourceNSDD
name: "Northern Sweden Diet Database"
url: "https://snd.gu.se/en/catalogue/study/ext0131"
typeOf: dcs:GenVarSourceEnum

Node: dcid:GenVarSourceTwinsUK
name: "Twins UK"
url: "https://twinsuk.ac.uk/"
typeOf: dcs:GenVarSourceEnum

Node: dcid:GenVarSourceALSPAC
name: "Avon Longitudinal Study of Parents and Children"
url: "http://www.bristol.ac.uk/alspac/"
typeOf: dcs:GenVarSourceEnum

Node: dcid:GenVarSourceVietnameseGenomeProject
name: "Vietnamese Genetic Variation Database"
url: "https://genomes.vn/"
typeOf: dcs:GenVarSourceEnum

Node: dcid:GenVarSourceEstonianGenomeProject
name: "Estonian Genome Project"
url: "https://genomics.ut.ee/en/about-us/estonian-genome-centre/"
typeOf: dcs:GenVarSourceEnum

Node: dcid:GenomeAssemblyTypeEnum
name: "GenomeAssemblyTypeEnum"
typeOf: schema:Class
subClassOf: schema:Enumeration
description: "The type of sequence model data defined in this genome assembly."

Node: dcid:GenomeAssemblyTypeAssembly
name: "GenomeAssemblyTypeAssembly"
typeOf: dcs:GenomeAssemblyTypeEnum
descriptionUrl: "https://www.ncbi.nlm.nih.gov/assembly/model/#asmb_def"
description: "The set of chromosomes, unlocalized and unplaced (sometimes called 'random') and alternate sequences used to represent an organism's genome. Assemblies are constructed from 1 or more assembly units."

Node: dcid:GenomeAssemblyTypeHaploidAssembly
name: "GenomeAssemblyTypeHaploidAssembly"
typeOf: dcs:GenomeAssemblyTypeEnum
specializationOf: dcs:GenomeAssemblyTypeAssembly
descriptionUrl: "https://www.ncbi.nlm.nih.gov/assembly/model/#asmb_def"
description: "The collection of chromosome assemblies, unlocalized and unplaced sequences that represent an organism's genome. Any locus may be represented 0 or 1 time, and entire chromosomes are only represented 0 or 1 times."

Node: dcid:GenomeAssemblyTypeHaploidWithAltLoci
name: "GenomeAssemblyTypeHaploidWithAltLoci"
typeOf: dcs:GenomeAssemblyTypeEnum
specializationOf: dcs:GenomeAssemblyTypeAssembly
descriptionUrl: "https://www.ncbi.nlm.nih.gov/assembly/model/#asmb_def"
description: "The collection of chromosome assemblies, unlocalized and unplaced sequences and alternate loci that represent an organism's genome. Any locus may be represented 0, 1 or >1 time, but entire chromosomes are only represented 0 or 1 times."

Node: dcid:GenomeAssemblyTypeDiploidAssembly
name: "GenomeAssemblyTypeDiploidAssembly"
typeOf: dcs:GenomeAssemblyTypeEnum
specializationOf: dcs:GenomeAssemblyTypeAssembly
descriptionUrl: "https://www.ncbi.nlm.nih.gov/assembly/model/#asmb_def"
description: "A genome assembly for which a chromosome assembly is available for both sets of an individual's chromosomes. It is anticipated that a diploid genome assembly represents the genome of an individual, therefore, it is not expected that alternate loci will be defined for this assembly, although it is possible that unlocalized or unplaced sequences could be part of the assembly."

Node: dcid:GenomeAssemblyTypeUnresolvedDiploid
name: "GenomeAssemblyTypeUnresolvedDiploid"
typeOf: dcs:GenomeAssemblyTypeEnum
descriptionUrl: "https://www.ncbi.nlm.nih.gov/assembly/model/#asmb_def"
description: "A genome assembly from a diploid in which many of the haplotypic sequences have been resolved but the two haplotypes have not been separated. Consequently, the assembly will be much larger than the expected haploid genome size and many genes will be present in two copies."

Node: dcid:GenomeAssemblyTypeLinkedPseudohaplotypeAssemblies
name: "GenomeAssemblyTypeLinkedPseudohaplotypeAssemblies"
typeOf: dcs:GenomeAssemblyTypeEnum
descriptionUrl: "https://www.ncbi.nlm.nih.gov/assembly/model/#asmb_def"
description: "A genome assembly from a diploid in which many of the haplotypic sequences have been resolved, phased and the two haplotypes have been separated. The current state of the technology is that most assemblers produce blocks that are phased, separated by blocks where the haplotype cannot be distinguished. The typical result is that the "Principal Pseudohaplotype" assembly is a mosaic of haplotype blocks linked by unresolved segments and the "Alternate Pseudohaplotype" assembly is the other haplotype wherever the haplotypes can be distinguished. A pair of pseudohaplotype assemblies derived from the same diploid individual can be linked with a cross-reference."

Node: dcid:GenomeAssemblyReleaseTypeEnum
name: "GenomeAssemblyReleaseTypeEnum"
typeOf: schema:Class
subClassOf: schema:Enumeration
description: "Defines the update type of this genome assembly version release."

Node: dcid:GenomeAssemblyReleaseTypeMajor
name: "GenomeAssemblyReleaseTypeMajor"
typeOf: dcs:GenomeAssemblyReleaseTypeEnum
descriptionUrl: "https://www.ncbi.nlm.nih.gov/assembly/help/"
description: "Changes from the previous assembly version result in a significant change to the coordinate system. The first version of an assembly is always a major release. Most subsequent genome assembly updates are also major releases. [Field is not shown for major releases since this is the default type.]"

Node: dcid:GenomeAssemblyReleaseTypeMinor
name: "GenomeAssemblyReleaseTypeMinor"
typeOf: dcs:GenomeAssemblyReleaseTypeEnum
descriptionUrl: "https://www.ncbi.nlm.nih.gov/assembly/help/"
description: "Changes from the previous assembly version are limited to the following changes, none of which result in a significant change to the coordinate system of the primary assembly-unit: adding, removing or changing a non-nuclear assembly-unit; dropping unplaced or unlocalized scaffolds; adding up to 50 unplaced or unlocalized scaffolds which are shorter than the current scaffold-N50 value; or replacing a component with a gap of the same length."

Node: dcid:GenomeAssemblyReleaseTypePatch
name: "GenomeAssemblyReleaseTypePatch"
typeOf: dcs:GenomeAssemblyReleaseTypeEnum
descriptionUrl: "https://www.ncbi.nlm.nih.gov/assembly/help/"
description: "The only change from the previous assembly version is the addition or modification of a patch assembly-unit (relevant for assemblies maintained by the Genome Reference Consortium)"

Node: dcid:GenomeAssemblyLevelEnum
name: "GenomeAssemblyLevelEnum"
typeOf: schema:Class
subClassOf: schema:Enumeration
description: "The highest level of assembly for any object in the assembly."
descriptionUrl: "https://www.ncbi.nlm.nih.gov/assembly/help/#level"

Node: dcid:GenomeAssemblyLevelCompleteGenome
name: "GenomeAssemblyReleaseTypeCompleteGenome"
typeOf: dcs:GenomeAssemblyLevelEnum
descriptionUrl: "https://www.ncbi.nlm.nih.gov/assembly/help/#level"
description: "All chromosomes are gapless and have no runs of 10 or more ambiguous bases (Ns), there are no unplaced or unlocalized scaffolds, and all the expected chromosomes are present (i.e. the assembly is not noted as having partial genome representation). Plasmids and organelles may or may not be included in the assembly but if present then the sequences are gapless."

Node: dcid:GenomeAssemblyLevelChromosome
name: "GenomeAssemblyReleaseTypeChromosome"
typeOf: dcs:GenomeAssemblyLevelEnum
descriptionUrl: "https://www.ncbi.nlm.nih.gov/assembly/help/#level"
description: "There is sequence for one or more chromosomes. This could be a completely sequenced chromosome without gaps or a chromosome containing scaffolds or contigs with gaps between them. There may also be unplaced or unlocalized scaffolds."

Node: dcid:GenomeAssemblyLevelScaffold
name: "GenomeAssemblyReleaseTypeScaffold"
typeOf: dcs:GenomeAssemblyLevelEnum
descriptionUrl: "https://www.ncbi.nlm.nih.gov/assembly/help/#level"
description: "Some sequence contigs have been connected across gaps to create scaffolds, but the scaffolds are all unplaced or unlocalized."

Node: dcid:GenomeAssemblyLevelContig
name: "GenomeAssemblyReleaseTypeContig"
typeOf: dcs:GenomeAssemblyLevelEnum
descriptionUrl: "https://www.ncbi.nlm.nih.gov/assembly/help/#level"
description: "Nothing is assembled beyond the level of sequence contigs."

Node: dcid:RefSeqCategoryEnum
name: "RefSeqCategoryEnum"
typeOf: schema:Class
subClassOf: schema:Enumeration
description: "Denotes that the assembly is a reference or representative genome in the NCBI Reference Sequence ( RefSeq ) project classification."
descriptionUrl: "https://www.ncbi.nlm.nih.gov/assembly/help/"

Node: dcid:RefSeqCategoryReferenceGenome
name: "RefSeqCategoryReferenceGenome"
typeOf: dcs:GenomeAssemblyLevelEnum
descriptionUrl: "https://www.ncbi.nlm.nih.gov/assembly/help/"
description: "A manually selected high quality genome assembly that NCBI and the community have identified as being important as a standard against which other data are compared."

Node: dcid:RefSeqCategoryRepresentationGenome
name: "RefSeqCategoryRepresentationGenome"
typeOf: dcs:GenomeAssemblyLevelEnum
descriptionUrl: "https://www.ncbi.nlm.nih.gov/assembly/help/"
description: "A genome computationally or manually selected as a representative from among the best genomes available for a species or clade that does not have a designated reference genome."

Node: dcid:DNASequenceRoleEnum
name: "DNASequenceRoleEnum"
typeOf: schema:Class
subClassOf: schema:Enumeration
description: "The role a defined sequence of DNA has in a genome assembly."

Node: dcid:DNASequenceRoleAssembledMolecule
name: "DNASequenceRoleAssembled-molecule"
typeOf: dcs:DNASequenceRoleEnum
descriptionUrl: "https://www.ncbi.nlm.nih.gov/assembly/help"
description: "The object represents a chromosome, linkage-group, or plasmid."

Node: dcid:DNASequenceRoleChromosome
name: "DNASequenceRoleChromosome"
typeOf: dcs:DNASequenceRoleEnum
descriptionUrl: "https://www.ncbi.nlm.nih.gov/assembly/help"
description: "The object represents a chromosome, linkage-group, or plasmid."

Node: dcid:DNASequenceRoleUnlocalizedScaffold
name: "DNASequenceRoleUnlocalizedScaffold"
typeOf: dcs:DNASequenceRoleEnum
descriptionUrl: "https://www.ncbi.nlm.nih.gov/assembly/help"
description: "The object is a scaffold that is associated with a particular chromosome but has not been localized to a specific position on the chromosome."

Node: dcid:DNASequenceRoleUnplacedScaffold
name: "DNASequenceRoleUnplacedScaffold"
typeOf: dcs:DNASequenceRoleEnum
descriptionUrl: "https://www.ncbi.nlm.nih.gov/assembly/help"
description: "The object is a scaffold that does not have a chromosome assignment."

Node: dcid:DNASequenceRoleAltScaffold
name: "DNASequenceRoleAlt-scaffold"
typeOf: dcs:DNASequenceRoleEnum
descriptionUrl: "https://www.ncbi.nlm.nih.gov/assembly/help"
description: "The object is either an alternate loci scaffold or a patch scaffold."

Node: dcid:DNASequenceRoleFixPatch
name: "DNASequenceRoleFix-patch"
typeOf: dcs:DNASequenceRoleEnum
description: "The object is a fix patch to the assembly-unit scaffold."

Node: dcid:DNASequenceRoleNovelPatch
name: "DNASequenceRoleNovel-patch"
typeOf: dcs:DNASequenceRoleEnum
description: "The object is a novel patch to the assembly-unit scaffold."