A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3112639



Internal ID21295905
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:143836596..143838580hg38UCSC Ensembl
Innerchr2:144594165..144596149hg19UCSC Ensembl
Cytoband2q22.3
Allele length
AssemblyAllele length
hg381985
hg191985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14102542, nssv14103211, nssv14104678
Samplessample65, sample76, sample147
Known Genes
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3112639
Frequency
Sample Size467
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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