A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv946765



Internal ID16240721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:36122680..36245332hg38UCSC Ensembl
Innerchr21:37494978..37617630hg19UCSC Ensembl
Innerchr21:36416848..36539500hg18UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg38122653
hg19122653
hg18122653
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv587468
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)nssv946765
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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