A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17695686



Internal ID119352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:18224580..18712137hg38UCSC Ensembl
chr14:19001057..19488614hg19UCSC Ensembl
Cytoband14q11.1
Allele length
AssemblyAllele length
hg38487558
hg19487558
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6143679
Supporting Variants
Samples
Known GenesLOC642426, OR11H12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17695686
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000626


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