A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3117063



Internal ID21300329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:231419161..231425386hg38UCSC Ensembl
Innerchr1:231554907..231561132hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg386226
hg196226
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv119n145
Supporting Variantsnssv14106509
Samplessample81
Known GenesEGLN1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3117063
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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