A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv652182



Internal ID15042148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176878677..176887433hg38UCSC Ensembl
Innerchr5:176305678..176314434hg19UCSC Ensembl
Innerchr5:176238284..176247040hg18UCSC Ensembl
Innerchr5:176238284..176247040hg17UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg388757
hg198757
hg188757
hg178757
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517492
Supporting Variants
Samples
Known GenesHK3, UNC5A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv652182
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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