A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5552351



Internal ID325722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46822524..46830093hg38UCSC Ensembl
chr22:47218421..47225990hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg387570
hg197570
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729594
Samples
Known GenesTBC1D22A
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5552351
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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