A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5546469



Internal ID320417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:43650175..43652153hg38UCSC Ensembl
chr22:44046055..44048033hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg381979
hg191979
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729355
Samples
Known GenesEFCAB6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5546469
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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