A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3115249



Internal ID21298515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:225121028..225125070hg38UCSC Ensembl
Innerchr2:225985745..225989787hg19UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg384043
hg194043
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv668n145
Supporting Variantsnssv14106070
Samplessample296
Known Genes
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3115249
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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