A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521347



Internal ID15101954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:32460579..32681122hg38UCSC Ensembl
Innerchr20:31048382..31268924hg19UCSC Ensembl
Innerchr20:30512043..30732585hg18UCSC Ensembl
Innerchr20:30512043..30732585hg17UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg38220544
hg19220543
hg18220543
hg17220543
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697955
Samples
Known GenesC20orf112, C20orf203, LOC149950
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521347
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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