A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5552172



Internal ID325568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:32130274..32170624hg38UCSC Ensembl
chr22:32526261..32566611hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3840351
hg1940351
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17728531
Samples
Known GenesAP1B1P1, C22orf42
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5552172
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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