nsv2770609

  • Variant Calls:3
  • Validation:Yes
  • Clinical Assertions: Yes
  • Region Size:133,136,696
  • Description:See descriptions for individual calls in download files. PLEASE NOTE: The calls represented in this region now have equivalents in the study Clinical Structural Variants (nstd102). Please use the preferred nstd102 variant region accession for this variant; you can find it at top right under "Links to Other Resources" or in the mapping file provided here.
  • Publication(s):Miller et al. 2010

Genome View

Select assembly:
Overlapping variant regions from other studies: 317886 SVs from 138 studies. See in: genome view    
Remapped(Score: Good):64,621-133,201,316Question Mark
Overlapping variant regions from other studies: 316703 SVs from 138 studies. See in: genome view    
Submitted genomic173,787-133,777,902Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv2770609RemappedGoodGRCh38.p12Primary AssemblyFirst PassNC_000012.12Chr1264,621133,201,316
nsv2770609Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000012.11Chr12173,787133,777,902

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy numberOther Calls in this Sample and Study
nssv13639183copy number gainSNP arraySNP genotyping analysisAbnormality of the facePathogenicClinVarSCV0005846583
nssv13639327copy number gainABC21629SNP arraySNP genotyping analysisAbnormal facial shape; Intrauterine growth retardation; Micrognathia; Syndactyly; Ventricular septal defectPathogenicClinVarSCV000584658323
nssv13656028copy number gainABC24328SNP arraySNP genotyping analysisAbnormality of the ear; Polydactyly; Short stature; obsolete Malformation of the heart and great vesselsPathogenicClinVarSCV0005846592,323

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv13639183RemappedGoodNC_000012.12:g.(?_
64621)_(133201316_
?)dup
GRCh38.p12First PassNC_000012.12Chr1264,621133,201,316
nssv13639327RemappedGoodNC_000012.12:g.(?_
64621)_(133201316_
?)dup
GRCh38.p12First PassNC_000012.12Chr1264,621133,201,316
nssv13656028RemappedGoodNC_000012.12:g.(?_
64621)_(133201316_
?)dup
GRCh38.p12First PassNC_000012.12Chr1264,621133,201,316
nssv13639183Submitted genomicNC_000012.11:g.(?_
173787)_(133777902
_?)dup
GRCh37 (hg19)NC_000012.11Chr12173,787133,777,902
nssv13639327Submitted genomicNC_000012.11:g.(?_
173787)_(133777902
_?)dup
GRCh37 (hg19)NC_000012.11Chr12173,787133,777,902
nssv13656028Submitted genomicNC_000012.11:g.(?_
173787)_(133777902
_?)dup
GRCh37 (hg19)NC_000012.11Chr12173,787133,777,902

Validation Information

Variant Call IDExperiment IDSample IDMethodAnalysisResult
nssv1365602862ABC24328FISHManual observationPass
nssv1363918362Sample data available in dbGaPFISHManual observationPass
nssv1363932763ABC21629KaryotypingManual observationPass
nssv1365602863ABC24328KaryotypingManual observationPass

Clinical Assertions

Variant Call IDSample IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDGenderCopy numberOther Calls in this Sample and Study
nssv13639183GRCh37: NC_000012.11:g.(?_173787)_(133777902_?)dupcopy number gainnot providedAbnormality of the facePathogenicClinVarSCV0005846583
nssv13639327ABC21629GRCh37: NC_000012.11:g.(?_173787)_(133777902_?)dupcopy number gainnot providedAbnormal facial shape; Intrauterine growth retardation; Micrognathia; Syndactyly; Ventricular septal defectPathogenicClinVarSCV000584658Female323
nssv13656028ABC24328GRCh37: NC_000012.11:g.(?_173787)_(133777902_?)dupcopy number gainnot providedAbnormality of the ear; Polydactyly; Short stature; obsolete Malformation of the heart and great vesselsPathogenicClinVarSCV000584659Male2,323

No genotype data were submitted for this variant

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