A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv587468



Internal ID16374877
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 StatusM
Merged Variantsdgv7832n54
Supporting Variantsnssv946764, nssv946765
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)nsv587468
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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