A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3112377



Internal ID21295643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:176130783..176132674hg38UCSC Ensembl
Innerchr2:176995511..176997402hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg381892
hg191892
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv656n145
Supporting Variantsnssv14105682
Samplessample208
Known GenesHOXD8
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3112377
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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