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nsv3890891

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:381,281
  • Description:GRCh37/hg19 12q24.21(chr12:114995645-115376925) AND not specified

Genome View

Select assembly:
Overlapping variant regions from other studies: 1349 SVs from 69 studies. See in: genome view    
Remapped(Score: Perfect):114,557,840-114,939,120Question Mark
Overlapping variant regions from other studies: 1349 SVs from 69 studies. See in: genome view    
Submitted genomic114,995,645-115,376,925Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv3890891RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000012.12Chr12114,557,840114,939,120
nsv3890891Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000012.11Chr12114,995,645115,376,925

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17969556copy number lossMultipleMultiplenot specifiedPathogenicClinVarRCV002053020.1, VCV001527734.1

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv17969556RemappedPerfectNC_000012.12:g.(?_
114557840)_(114939
120_?)del
GRCh38.p12First PassNC_000012.12Chr12114,557,840114,939,120
nssv17969556Submitted genomicNC_000012.11:g.(?_
114995645)_(115376
925_?)del
GRCh37 (hg19)NC_000012.11Chr12114,995,645115,376,925

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17969556GRCh37: NC_000012.11:g.(?_114995645)_(115376925_?)delcopy number lossgermlinenot specifiedPathogenicClinVarRCV002053020.1, VCV001527734.1

No genotype data were submitted for this variant

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