A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453851



Internal ID231962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:55069796..55070077hg38UCSC Ensembl
chr3:55103823..55104104hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg38282
hg19282
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16934483
Samples
Known GenesCACNA2D3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453851
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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