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nsv491514

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:3,009,195

Genome View

Select assembly:
Overlapping variant regions from other studies: 5995 SVs from 102 studies. See in: genome view    
Remapped(Score: Perfect):72,671,374-75,680,568Question Mark
Overlapping variant regions from other studies: 5996 SVs from 102 studies. See in: genome view    
Submitted genomic72,963,715-75,972,909Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv491514RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000015.10Chr1572,671,37475,680,568
nsv491514Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000015.9Chr1572,963,71575,972,909

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationCopy number
nssv1184539copy number lossCuratedCuratedCHROMOSOME 15q25 DELETION SYNDROMEPathogenicClinGen Dosage Sensitivity Map1

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv1184539RemappedPerfectNC_000015.10:g.(?_
72671374)_(7568056
8_?)del
GRCh38.p12First PassNC_000015.10Chr1572,671,37475,680,568
nssv1184539Submitted genomicNC_000015.9:g.(?_7
2963715)_(75972909
_?)del
GRCh37 (hg19)NC_000015.9Chr1572,963,71575,972,909

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeSubject PhenotypeClinical InterpretationSource of InterpretationCopy number
nssv1184539GRCh37: NC_000015.9:g.(?_72963715)_(75972909_?)delcopy number lossCHROMOSOME 15q25 DELETION SYNDROMEPathogenicClinGen Dosage Sensitivity Map1

No genotype data were submitted for this variant

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