A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586242



Internal ID16026965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54031284..54039323hg38UCSC Ensembl
Innerchr20:52647823..52655862hg19UCSC Ensembl
Innerchr20:52081230..52089269hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg388040
hg198040
hg188040
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7607n54
Supporting Variantsnssv941377, nssv941378
Samples
Known GenesBCAS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586242
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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