A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17729435



Internal ID153101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44860913..44860968hg38UCSC Ensembl
chr22:45256793..45256848hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5541643
Supporting Variants
Samples
Known GenesARHGAP8, PRR5-ARHGAP8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17729435
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000781


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