A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5545328



Internal ID319379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:49951172..49951302hg38UCSC Ensembl
chr22:50344820..50344950hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38131
hg19131
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729892
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5545328
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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