A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6146236



Internal ID345441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54149874..54158874hg38UCSC Ensembl
chr19:54653611..54662612hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg389001
hg199002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17725499
Samples
Known GenesCNOT3, LENG1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6146236
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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