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nsv6313539

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:5,023,411
  • Description:GRCh37/hg19 3q26.33-27.3(chr3:182189525-187212935) AND not specified

Genome View

Select assembly:
Overlapping variant regions from other studies: 14170 SVs from 121 studies. See in: genome view    
Remapped(Score: Perfect):182,471,737-187,495,147Question Mark
Overlapping variant regions from other studies: 14171 SVs from 121 studies. See in: genome view    
Submitted genomic182,189,525-187,212,935Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv6313539RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000003.12Chr3182,471,737187,495,147
nsv6313539Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000003.11Chr3182,189,525187,212,935

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17969921copy number lossMultipleMultiplenot specifiedPathogenicClinVarRCV002053393.3, VCV001527061.3

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv17969921RemappedPerfectNC_000003.12:g.(?_
182471737)_(187495
147_?)del
GRCh38.p12First PassNC_000003.12Chr3182,471,737187,495,147
nssv17969921Submitted genomicNC_000003.11:g.(?_
182189525)_(187212
935_?)del
GRCh37 (hg19)NC_000003.11Chr3182,189,525187,212,935

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17969921GRCh37: NC_000003.11:g.(?_182189525)_(187212935_?)delcopy number lossgermlinenot specifiedPathogenicClinVarRCV002053393.3, VCV001527061.3

No genotype data were submitted for this variant

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