A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5994147



Internal ID21903490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:54634485..54639772hg38UCSC Ensembl
chr3:54668512..54673799hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg385288
hg195288
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17542122
Samples
Known GenesCACNA2D3, ESRG
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv5994147
Frequency
Sample Size405
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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