A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6146752



Internal ID345957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54134874..54159874hg38UCSC Ensembl
chr19:54638592..54663612hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3825001
hg1925021
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17725496
Samples
Known GenesCNOT3, LENG1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6146752
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer