A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5546749



Internal ID320662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21955564..22271564hg38UCSC Ensembl
chr22:22309936..22625947hg19UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38316001
hg19316012
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17727831
Samples
Known GenesTOP3B, VPREB1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5546749
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer