A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3116081



Internal ID21299347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:231418921..231425100hg38UCSC Ensembl
Innerchr1:231554667..231560846hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg386180
hg196180
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv119n145
Supporting Variantsnssv14099406
Samplessample378
Known GenesEGLN1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3116081
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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