A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3116389



Internal ID21299655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:46288051..46289679hg38UCSC Ensembl
Innerchr2:46515190..46516818hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381629
hg191629
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14106290
Samplessample346
Known Genes
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3116389
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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