A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586327



Internal ID16027050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:57525340..57527129hg38UCSC Ensembl
Innerchr20:56100396..56102185hg19UCSC Ensembl
Innerchr20:55533802..55535591hg18UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg381790
hg191790
hg181790
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7621n54
Supporting Variantsnssv941741, nssv941739, nssv941740
Samples
Known GenesCTCFL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586327
Frequency
Sample Size17421
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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