A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586488



Internal ID16027211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:62322665..62394547hg38UCSC Ensembl
Innerchr20:60897721..60969603hg19UCSC Ensembl
Innerchr20:60331116..60402998hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3871883
hg1971883
hg1871883
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7650n54
Supporting Variantsnssv1152387
SamplesHGDP00603
Known GenesCABLES2, LAMA5, MIR4758, RPS21
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586488
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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