A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv676645



Internal ID15413297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:60851927..61024330hg38UCSC Ensembl
Innerchr5:60147754..60320157hg19UCSC Ensembl
Innerchr5:60183511..60355914hg18UCSC Ensembl
Innerchr5:60183511..60355914hg17UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38172404
hg19172404
hg18172404
hg17172404
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520871
Supporting Variants
Samples
Known GenesERCC8, NDUFAF2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv676645
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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