A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521214



Internal ID15448507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:50692186..50741547hg38UCSC Ensembl
Innerchr5:49988020..50037381hg19UCSC Ensembl
Innerchr5:50023777..50073138hg18UCSC Ensembl
Innerchr5:50023777..50073138hg17UCSC Ensembl
Cytoband5q11.1
Allele length
AssemblyAllele length
hg3849362
hg1949362
hg1849362
hg1749362
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv687456, nssv694261, nssv685256
Samples
Known GenesPARP8
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521214
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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