A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6146635



Internal ID345840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54138874..54144874hg38UCSC Ensembl
chr19:54642590..54648610hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg386001
hg196021
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17725497
Samples
Known GenesCNOT3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6146635
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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