A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520938



Internal ID15101545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:82245419..82424900hg38UCSC Ensembl
Innerchr5:81541238..81720719hg19UCSC Ensembl
Innerchr5:81576994..81756475hg18UCSC Ensembl
Innerchr5:81576994..81756475hg17UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg38179482
hg19179482
hg18179482
hg17179482
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697698
Samples
Known GenesATG10, ATP6AP1L, RPS23
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520938
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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