A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582217



Internal ID16022940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:74736541..74993869hg38UCSC Ensembl
Innerchr2:74963668..75220996hg19UCSC Ensembl
Innerchr2:74817176..75074504hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38257329
hg19257329
hg18257329
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv912192
Samples
Known GenesHK2, POLE4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582217
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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