A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv690578



Internal ID15427230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:41229175..41234906hg38UCSC Ensembl
Innerchr5:41229277..41235008hg19UCSC Ensembl
Innerchr5:41265034..41270765hg18UCSC Ensembl
Innerchr5:41265034..41270765hg17UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg385732
hg195732
hg185732
hg175732
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516193
Supporting Variants
Samples
Known GenesC6
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv690578
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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