A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17722851



Internal ID146517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:32969722..32969781hg38UCSC Ensembl
chr19:33460628..33460687hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5518403
Supporting Variants
Samples
Known GenesCEP89
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17722851
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000937


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