A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517492



Internal ID15098099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:176878677..176887433hg38UCSC Ensembl
Innerchr5:176305678..176314434hg19UCSC Ensembl
Innerchr5:176238284..176247040hg18UCSC Ensembl
Innerchr5:176238284..176247040hg17UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg388757
hg198757
hg188757
hg178757
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv362n21
Supporting Variantsnssv654677, nssv692761, nssv657147, nssv652182, nssv677031, nssv681343, nssv695728, nssv699429
Samples
Known GenesHK3, UNC5A
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517492
Frequency
Sample Size2026
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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