A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586246



Internal ID16026969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54031284..54044202hg38UCSC Ensembl
Innerchr20:52647823..52660741hg19UCSC Ensembl
Innerchr20:52081230..52094148hg18UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3812919
hg1912919
hg1812919
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7610n54
Supporting Variantsnssv941458, nssv941459, nssv941455, nssv941456, nssv941460, nssv941457, nssv941461
Samples
Known GenesBCAS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586246
Frequency
Sample Size17421
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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