A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv519426



Internal ID15100033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:2687083..2701560hg38UCSC Ensembl
Innerchr20:2667729..2682206hg19UCSC Ensembl
Innerchr20:2615729..2630206hg18UCSC Ensembl
Innerchr20:2615729..2630206hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3814478
hg1914478
hg1814478
hg1714478
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv656147, nssv673188
Samples
Known GenesEBF4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv519426
Frequency
Sample Size2026
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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