A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv679505



Internal ID15069471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:134523918..134643239hg38UCSC Ensembl
Innerchr5:133859609..133978929hg19UCSC Ensembl
Innerchr5:133887508..134006828hg18UCSC Ensembl
Innerchr5:133887508..134006828hg17UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38119322
hg19119321
hg18119321
hg17119321
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520381
Supporting Variants
Samples
Known GenesJADE2, SAR1B
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv679505
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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