A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596630



Internal ID16384039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:457840..566667hg38UCSC Ensembl
Innerchr5:457955..566782hg19UCSC Ensembl
Innerchr5:510955..619782hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38108828
hg19108828
hg18108828
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9479n54
Supporting Variantsnssv1021073
Samples
Known GenesEXOC3, MIR4456, PP7080, SLC9A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596630
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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