A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14100353



Internal ID21286637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:78722139..79381250hg38UCSC Ensembl
Innerchr1:79187824..79846935hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38659112
hg19659112
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3115694
Supporting Variants
Samplessample392
Known GenesELTD1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14100353
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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