A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv946762



Internal ID16240718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:36122680..36180950hg38UCSC Ensembl
Innerchr21:37494978..37553248hg19UCSC Ensembl
Innerchr21:36416848..36475118hg18UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg3858271
hg1958271
hg1858271
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587466
Supporting Variants
Samples
Known GenesCBR3, CBR3-AS1, DOPEY2, LOC100133286
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv946762
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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