A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17728021



Internal ID151687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:23841564..23957564hg38UCSC Ensembl
chr22:24183751..24299751hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38116001
hg19116001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146258
Supporting Variants
Samples
Known GenesGSTT2, GSTT2B, LOC284889, MIF, SLC2A11
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17728021
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000472


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