A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3112561



Internal ID21295827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:201280350..201287079hg38UCSC Ensembl
Innerchr2:202145073..202151802hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg386730
hg196730
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14105093
Samplessample12
Known GenesCASP8
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3112561
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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