A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586319



Internal ID16027042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:57525185..57527076hg38UCSC Ensembl
Innerchr20:56100241..56102132hg19UCSC Ensembl
Innerchr20:55533647..55535538hg18UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg381892
hg191892
hg181892
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7621n54
Supporting Variantsnssv941652, nssv941650, nssv941653, nssv941651
Samples
Known GenesCTCFL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586319
Frequency
Sample Size17421
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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