A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17729877



Internal ID153543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:49831103..49834532hg38UCSC Ensembl
chr22:50224751..50228180hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg383430
hg193430
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5553446
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17729877
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