A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17695014



Internal ID118680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:41583887..41584044hg38UCSC Ensembl
chr14:42053090..42053247hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5502421
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17695014
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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