A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17727775



Internal ID151441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:21334782..21545382hg38UCSC Ensembl
chr22:21689071..21899671hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38210601
hg19210601
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6146412
Supporting Variants
Samples
Known GenesHIC2, PI4KAP2, RIMBP3B, RIMBP3C, TMEM191C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17727775
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