A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586247



Internal ID16026970
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54031284..54046870hg38UCSC Ensembl
Innerchr20:52647823..52663409hg19UCSC Ensembl
Innerchr20:52081230..52096816hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3815587
hg1915587
hg1815587
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7610n54
Supporting Variantsnssv941462, nssv941464, nssv941463
Samples
Known GenesBCAS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586247
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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