A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17694720



Internal ID118386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:46591425..46591425hg38UCSC Ensembl
chr14:47060628..47060628hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg38122
hg19122
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5545637
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17694720
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.017154


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