A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3110539



Internal ID21293805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:74701902..75012326hg38UCSC Ensembl
Innerchr2:74929029..75239453hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38310425
hg19310425
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14102355
Samplessample31
Known GenesHK2, POLE4
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3110539
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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