A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519738



Internal ID15447031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:83198239..83206074hg38UCSC Ensembl
Innerchr5:82494058..82501893hg19UCSC Ensembl
Innerchr5:82529814..82537649hg18UCSC Ensembl
Innerchr5:82529814..82537649hg17UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg387836
hg197836
hg187836
hg177836
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv658030, nssv685055
Samples
Known GenesXRCC4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519738
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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