A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723299



Internal ID146965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38966225..39023100hg38UCSC Ensembl
chr19:39456865..39513740hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3856876
hg1956876
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5528317
Supporting Variants
Samples
Known GenesFBXO17
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723299
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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