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nsv3887339

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:5,035,278
  • Description:GRCh37/hg19 3q13.2-13.31(chr3:111894832-116930109)x1 AND not provided

Genome View

Select assembly:
Overlapping variant regions from other studies: 11702 SVs from 119 studies. See in: genome view    
Remapped(Score: Perfect):112,175,985-117,211,262Question Mark
Overlapping variant regions from other studies: 11702 SVs from 119 studies. See in: genome view    
Submitted genomic111,894,832-116,930,109Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv3887339RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000003.12Chr3112,175,985117,211,262
nsv3887339Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000003.11Chr3111,894,832116,930,109

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15153504copy number lossMultipleMultiplenot providedPathogenicClinVarRCV000682296.1, VCV000562807.11

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv15153504RemappedPerfectNC_000003.12:g.(?_
112175985)_(117211
262_?)del
GRCh38.p12First PassNC_000003.12Chr3112,175,985117,211,262
nssv15153504Submitted genomicNC_000003.11:g.(?_
111894832)_(116930
109_?)del
GRCh37 (hg19)NC_000003.11Chr3111,894,832116,930,109

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15153504GRCh37: NC_000003.11:g.(?_111894832)_(116930109_?)delcopy number lossgermlinenot providedPathogenicClinVarRCV000682296.1, VCV000562807.11

No genotype data were submitted for this variant

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