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nsv6313722

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:8,717,801
  • Description:GRCh37/hg19 7q31.33-33(chr7:123967475-132729981) AND not specified

Genome View

Select assembly:
Overlapping variant regions from other studies: 22660 SVs from 125 studies. See in: genome view    
Remapped(Score: Good):124,327,421-133,045,221Question Mark
Overlapping variant regions from other studies: 22628 SVs from 125 studies. See in: genome view    
Submitted genomic123,967,475-132,729,981Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv6313722RemappedGoodGRCh38.p12Primary AssemblyFirst PassNC_000007.14Chr7124,327,421133,045,221
nsv6313722Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000007.13Chr7123,967,475132,729,981

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17970251copy number lossMultipleMultiplenot specifiedPathogenicClinVarRCV002053723.3, VCV001527391.3

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv17970251RemappedGoodNC_000007.14:g.(?_
124327421)_(133045
221_?)del
GRCh38.p12First PassNC_000007.14Chr7124,327,421133,045,221
nssv17970251Submitted genomicNC_000007.13:g.(?_
123967475)_(132729
981_?)del
GRCh37 (hg19)NC_000007.13Chr7123,967,475132,729,981

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17970251GRCh37: NC_000007.13:g.(?_123967475)_(132729981_?)delcopy number lossgermlinenot specifiedPathogenicClinVarRCV002053723.3, VCV001527391.3

No genotype data were submitted for this variant

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