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nsv7094478

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:315,690

Genome View

Select assembly:
Overlapping variant regions from other studies: 905 SVs from 69 studies. See in: genome view    
Remapped(Score: Perfect):48,040,910-48,356,599Question Mark
Overlapping variant regions from other studies: 905 SVs from 69 studies. See in: genome view    
Submitted genomic48,615,046-48,930,735Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv7094478RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000013.11Chr1348,040,91048,356,599
nsv7094478Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000013.10Chr1348,615,04648,930,735

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv18788989deletionMultipleMultipleRETINOBLASTOMA; RB1; Retinoblastoma; Retinoblastoma; Retinoblastoma; Retinoblastoma; Retinoblastoma; See individual phenotypes in OMIM allelic variantsUncertain significanceClinVarRCV003111008.2, VCV002422873.2

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv18788989RemappedPerfectNC_000013.11:g.(?_
48040910)_(4835659
9_?)del
GRCh38.p12First PassNC_000013.11Chr1348,040,91048,356,599
nssv18788989Submitted genomicNC_000013.10:g.(?_
48615046)_(4893073
5_?)del
GRCh37 (hg19)NC_000013.10Chr1348,615,04648,930,735

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv18788989GRCh37: NC_000013.10:g.(?_48615046)_(48930735_?)deldeletiongermlineRETINOBLASTOMA; RB1; Retinoblastoma; Retinoblastoma; Retinoblastoma; Retinoblastoma; Retinoblastoma; See individual phenotypes in OMIM allelic variantsUncertain significanceClinVarRCV003111008.2, VCV002422873.2

No genotype data were submitted for this variant

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