A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17728367



Internal ID152033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29496152..29499706hg38UCSC Ensembl
chr22:29892141..29895695hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg383555
hg193555
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5551252
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17728367
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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