A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5453408



Internal ID231530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:48904780..48908761hg38UCSC Ensembl
chr3:48942213..48946194hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg383982
hg193982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16933776
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5453408
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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