A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv585263



Internal ID16025986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:2224165..2391136hg38UCSC Ensembl
Innerchr20:2204811..2371782hg19UCSC Ensembl
Innerchr20:2152811..2319782hg18UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg38166972
hg19166972
hg18166972
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1152352
SamplesHGDP01197
Known GenesTGM3, TGM6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv585263
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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