A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv685256



Internal ID15421908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:50693867..50741547hg38UCSC Ensembl
Innerchr5:49989701..50037381hg19UCSC Ensembl
Innerchr5:50025458..50073138hg18UCSC Ensembl
Innerchr5:50025458..50073138hg17UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg3847681
hg1947681
hg1847681
hg1747681
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521214
Supporting Variants
Samples
Known GenesPARP8
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv685256
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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