A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17728425



Internal ID152091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30376112..30376168hg38UCSC Ensembl
chr22:30772101..30772157hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5533924
Supporting Variants
Samples
Known GenesCCDC157, KIAA1656
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17728425
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001874


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