A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv940974



Internal ID15888244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:48318896..48816978hg38UCSC Ensembl
Innerchr20:46947639..47433515hg19UCSC Ensembl
Innerchr20:46381046..46866922hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg38498083
hg19485877
hg18485877
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv586167
Supporting Variants
Samples
Known GenesLINC00494, PREX1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv940974
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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