A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117843



Internal ID21301109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:179605582..179614690hg38UCSC Ensembl
Innerchr2:180470309..180479417hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg389109
hg199109
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14106757
Samplessample364
Known GenesZNF385B
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117843
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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