A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv586500



Internal ID16373909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:62394547..62421984hg38UCSC Ensembl
Innerchr20:60969603..60997040hg19UCSC Ensembl
Innerchr20:60402998..60430435hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3827438
hg1927438
hg1827438
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv942124
Samples
Known GenesCABLES2, RBBP8NL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv586500
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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