A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14106509



Internal ID21291992
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 StatusS
Merged Variantsnsv3117063
Supporting Variants
Samplessample81
Known GenesEGLN1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14106509
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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