A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586257



Internal ID16026980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54031291..54041258hg38UCSC Ensembl
Innerchr20:52647830..52657797hg19UCSC Ensembl
Innerchr20:52081237..52091204hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg389968
hg199968
hg189968
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7608n54
Supporting Variantsnssv941494, nssv941493, nssv941495
Samples
Known GenesBCAS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586257
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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