A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5545056



Internal ID319135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:46221778..46229063hg38UCSC Ensembl
chr22:46617675..46624960hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg387286
hg197286
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17729553
Samples
Known GenesPPARA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5545056
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