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nsv4676065

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:511,613
  • Description:GRCh37/hg19 9q33.2(chr9:125105375-125616987)x3 AND not provided

Genome View

Select assembly:
Overlapping variant regions from other studies: 1120 SVs from 72 studies. See in: genome view    
Remapped(Score: Perfect):122,343,096-122,854,708Question Mark
Overlapping variant regions from other studies: 1120 SVs from 72 studies. See in: genome view    
Submitted genomic125,105,375-125,616,987Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv4676065RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000009.12Chr9122,343,096122,854,708
nsv4676065Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000009.11Chr9125,105,375125,616,987

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv16207026copy number gainMultipleMultiplenot providedUncertain significanceClinVarRCV001006271.1, VCV000815294.13

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv16207026RemappedPerfectNC_000009.12:g.(?_
122343096)_(122854
708_?)dup
GRCh38.p12First PassNC_000009.12Chr9122,343,096122,854,708
nssv16207026Submitted genomicNC_000009.11:g.(?_
125105375)_(125616
987_?)dup
GRCh37 (hg19)NC_000009.11Chr9125,105,375125,616,987

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv16207026GRCh37: NC_000009.11:g.(?_125105375)_(125616987_?)dupcopy number gaingermlinenot providedUncertain significanceClinVarRCV001006271.1, VCV000815294.13

No genotype data were submitted for this variant

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