A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5551871



Internal ID325292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:18041378..18042221hg38UCSC Ensembl
chr22:18524144..18524987hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38844
hg19844
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17727548
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5551871
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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