A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17698135



Internal ID121801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:63543713..63551713hg38UCSC Ensembl
chr14:64010431..64018431hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg388001
hg198001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6144721
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17698135
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000471


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