A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586244



Internal ID16026967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54031284..54041258hg38UCSC Ensembl
Innerchr20:52647823..52657797hg19UCSC Ensembl
Innerchr20:52081230..52091204hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg389975
hg199975
hg189975
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7608n54
Supporting Variantsnssv941381, nssv941395, nssv941383, nssv941396, nssv941391, nssv941390, nssv941384, nssv941386, nssv941394, nssv941389, nssv941397, nssv941393, nssv941382, nssv941392, nssv941388, nssv941387, nssv941380, nssv941385
Samples
Known GenesBCAS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586244
Frequency
Sample Size17421
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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