A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586255



Internal ID16026978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54031291..54039654hg38UCSC Ensembl
Innerchr20:52647830..52656193hg19UCSC Ensembl
Innerchr20:52081237..52089600hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg388364
hg198364
hg188364
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7607n54
Supporting Variantsnssv941491
Samples
Known GenesBCAS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586255
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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