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nsv3903760

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:2,611,067
  • Description:GRCh37/hg19 15q24.1-24.2(chr15:72958539-75569605)x1 AND See cases

Genome View

Select assembly:
Overlapping variant regions from other studies: 6016 SVs from 109 studies. See in: genome view    
Remapped(Score: Perfect):72,666,198-75,277,264Question Mark
Overlapping variant regions from other studies: 6017 SVs from 109 studies. See in: genome view    
Submitted genomic72,958,539-75,569,605Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv3903760RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000015.10Chr1572,666,19875,277,264
nsv3903760Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000015.9Chr1572,958,53975,569,605

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15124111copy number lossMultipleMultipleSee casesPathogenicClinVarRCV000240271.2, VCV000253560.21

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv15124111RemappedPerfectNC_000015.10:g.(?_
72666198)_(7527726
4_?)del
GRCh38.p12First PassNC_000015.10Chr1572,666,19875,277,264
nssv15124111Submitted genomicNC_000015.9:g.(?_7
2958539)_(75569605
_?)del
GRCh37 (hg19)NC_000015.9Chr1572,958,53975,569,605

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15124111GRCh37: NC_000015.9:g.(?_72958539)_(75569605_?)delcopy number lossunknownSee casesPathogenicClinVarRCV000240271.2, VCV000253560.21

No genotype data were submitted for this variant

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