A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057097



Internal ID18799628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:1050297..1333621hg38UCSC Ensembl
Innerchr20:1030940..1314265hg19UCSC Ensembl
Innerchr20:978940..1262265hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38283325
hg19283326
hg18283326
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3589967
Samples
Known GenesC20orf202, FKBP1A-SDCBP2, PSMF1, RAD21L1, SDCBP2, SDCBP2-AS1, SNPH, TMEM74B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057097
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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