A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv687059



Internal ID15423711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:60845418..61017188hg38UCSC Ensembl
Innerchr5:60141245..60313015hg19UCSC Ensembl
Innerchr5:60177002..60348772hg18UCSC Ensembl
Innerchr5:60177002..60348772hg17UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38171771
hg19171771
hg18171771
hg17171771
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)nssv687059
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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