A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700060



Internal ID15436712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:62378340..62394547hg38UCSC Ensembl
Innerchr20:60953396..60969603hg19UCSC Ensembl
Innerchr20:60386791..60402998hg18UCSC Ensembl
Innerchr20:60386791..60402998hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3816208
hg1916208
hg1816208
hg1716208
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv520024
Supporting Variants
Samples
Known GenesCABLES2, RPS21
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700060
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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