A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586325



Internal ID16027048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:57525340..57527020hg38UCSC Ensembl
Innerchr20:56100396..56102076hg19UCSC Ensembl
Innerchr20:55533802..55535482hg18UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg381681
hg191681
hg181681
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7621n54
Supporting Variantsnssv941726, nssv941733, nssv941717, nssv941731, nssv941730, nssv941720, nssv941734, nssv941721, nssv941732, nssv941728, nssv941723, nssv941729, nssv941736, nssv941719, nssv941727, nssv941722, nssv941718, nssv941724, nssv941735, nssv941725
Samples
Known GenesCTCFL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586325
Frequency
Sample Size17421
Observed Gain17
Observed Loss3
Observed Complex0
Frequencyn/a


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