A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694778



Internal ID15084744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:2745032..3030542hg38UCSC Ensembl
Innerchr20:2725678..3011188hg19UCSC Ensembl
Innerchr20:2673678..2959188hg18UCSC Ensembl
Innerchr20:2673678..2959188hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38285511
hg19285511
hg18285511
hg17285511
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv522009
Supporting Variants
Samples
Known GenesC20orf141, CPXM1, EBF4, PCED1A, PTPRA, TMEM239, VPS16
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694778
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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