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nsv3906002

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:5,497,344
  • Description:GRCh37/hg19 15q11.2-13.1(chr15:22770421-29062203)x1 AND See cases

Genome View

Select assembly:
Overlapping variant regions from other studies: 18897 SVs from 135 studies. See in: genome view    
Remapped(Score: Pass):23,319,714-28,817,057Question Mark
Overlapping variant regions from other studies: 7090 SVs from 110 studies. See in: genome view    
Remapped(Score: Pass):1-4,542,614Question Mark
Overlapping variant regions from other studies: 22394 SVs from 138 studies. See in: genome view    
Submitted genomic22,770,421-29,062,203Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv3906002RemappedPassGRCh38.p12Primary AssemblyFirst PassNC_000015.10Chr1523,319,71428,817,057
nsv3906002RemappedPassGRCh38.p12PATCHESSecond PassNW_011332701.1Chr15|NW_0
11332701.1
14,542,614
nsv3906002Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000015.9Chr1522,770,42129,062,203

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15149877copy number lossMultipleMultipleSee casesPathogenicClinVarRCV000510693.2, VCV000441588.21

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv15149877RemappedPassNW_011332701.1:g.(
?_1)_(4542614_?)de
l
GRCh38.p12Second PassNW_011332701.1Chr15|NW_0
11332701.1
14,542,614
nssv15149877RemappedPassNC_000015.10:g.(?_
23319714)_(2881705
7_?)del
GRCh38.p12First PassNC_000015.10Chr1523,319,71428,817,057
nssv15149877Submitted genomicNC_000015.9:g.(?_2
2770421)_(29062203
_?)del
GRCh37 (hg19)NC_000015.9Chr1522,770,42129,062,203

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15149877GRCh37: NC_000015.9:g.(?_22770421)_(29062203_?)delcopy number lossnot providedSee casesPathogenicClinVarRCV000510693.2, VCV000441588.21

No genotype data were submitted for this variant

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