A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723772



Internal ID147438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47420522..47420572hg38UCSC Ensembl
chr19:47923779..47923829hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5516228
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723772
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002036


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