A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5543280



Internal ID199496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:33329515..33329564hg38UCSC Ensembl
chr3:33371007..33371056hg19UCSC Ensembl
Cytoband3p22.3
Allele length
AssemblyAllele length
hg3875
hg1975
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16932434
Samples
Known GenesFBXL2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5543280
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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