A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17694850



Internal ID118516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:53688425..53688511hg38UCSC Ensembl
chr14:54155143..54155229hg19UCSC Ensembl
Cytoband14q22.2
Allele length
AssemblyAllele length
hg3887
hg1987
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5511258
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17694850
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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