A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv610759



Internal ID16051482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:19704486..20211331hg38UCSC Ensembl
Innerchr8:19561997..20068842hg19UCSC Ensembl
Innerchr8:19606277..20113122hg18UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38506846
hg19506846
hg18506846
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1107468
Samples
Known GenesATP6V1B2, INTS10, LPL, SLC18A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv610759
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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