A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16926140



Internal ID18164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:223815989..223831979hg38UCSC Ensembl
chr2:224680706..224696696hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg3815991
hg1915991
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5445547
Supporting Variants
Samples
Known GenesAP1S3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16926140
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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