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nsv3915506

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:37,189,472
  • Description:GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3 AND See cases

Genome View

Select assembly:
Overlapping variant regions from other studies: 113898 SVs from 145 studies. See in: genome view    
Submitted genomic52,899,183-90,088,654Question Mark
Overlapping variant regions from other studies: 113832 SVs from 145 studies. See in: genome view    
Submitted genomic52,933,095-90,155,062Question Mark
Overlapping variant regions from other studies: 29057 SVs from 40 studies. See in: genome view    
Submitted genomic51,490,596-88,682,563Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeAssemblyAssembly UnitSequence IDChrInner StartInner Stop
nsv3915506Submitted genomicGRCh38 (hg38)Primary AssemblyNC_000016.10Chr1652,899,18390,088,654
nsv3915506Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000016.9Chr1652,933,09590,155,062
nsv3915506Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000016.8Chr1651,490,59688,682,563

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15149003copy number gainMultipleMultipleSee casesPathogenicClinVarRCV000143425.6, VCV000155358.23

Variant Call Placement Information

Variant Call IDPlacement TypeHGVSAssemblySequence IDChrInner StartInner Stop
nssv15149003Submitted genomicNC_000016.10:g.(?_
52899183)_(9008865
4_?)dup
GRCh38 (hg38)NC_000016.10Chr1652,899,18390,088,654
nssv15149003Submitted genomicNC_000016.9:g.(?_5
2933095)_(90155062
_?)dup
GRCh37 (hg19)NC_000016.9Chr1652,933,09590,155,062
nssv15149003Submitted genomicNC_000016.8:g.(?_5
1490596)_(88682563
_?)dup
NCBI36 (hg18)NC_000016.8Chr1651,490,59688,682,563

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15149003GRCh37: NC_000016.9:g.(?_52933095)_(90155062_?)dup, GRCh38: NC_000016.10:g.(?_52899183)_(90088654_?)dup, NCBI36: NC_000016.8:g.(?_51490596)_(88682563_?)dupcopy number gainde novoSee casesPathogenicClinVarRCV000143425.6, VCV000155358.23

No genotype data were submitted for this variant

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