A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117916



Internal ID21301182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:225120411..225124356hg38UCSC Ensembl
Innerchr2:225985128..225989073hg19UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg383946
hg193946
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv668n145
Supporting Variantsnssv14106065
Samplessample295
Known Genes
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117916
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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