A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv942123



Internal ID16236079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:62394547..62410665hg38UCSC Ensembl
Innerchr20:60969603..60985721hg19UCSC Ensembl
Innerchr20:60402998..60419116hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3816119
hg1916119
hg1816119
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv586499
Supporting Variants
Samples
Known GenesCABLES2, RBBP8NL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv942123
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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