A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17725498



Internal ID149164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54142874..54150874hg38UCSC Ensembl
chr19:54646610..54654611hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg388001
hg198002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146333
Supporting Variants
Samples
Known GenesCNOT3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17725498
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001493


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