A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694772



Internal ID15431424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:75651610..75692544hg38UCSC Ensembl
Innerchr5:74947435..74988369hg19UCSC Ensembl
Innerchr5:74983191..75024125hg18UCSC Ensembl
Innerchr5:74983191..75024125hg17UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3840935
hg1940935
hg1840935
hg1740935
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522003
Supporting Variants
Samples
Known GenesANKDD1B, POC5
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694772
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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