A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15967914



Internal ID19693168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38935726..39009300hg38UCSC Ensembl
chr22:39331731..39405305hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3873575
hg1973575
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4290474
Supporting Variants
Samples
Known GenesAPOBEC3A, APOBEC3A_B, APOBEC3B, APOBEC3B-AS1
MethodSequencing
AnalysisSV calls were generated using multi-algorithm consensus pipeline involving raw evidence assessment, filtering, clustering, genotyping, alternative allele structure resolution, and gene annotation. These methods are described in detail in the gnomAD-SV preprint [Collins*, Brand*, et al., bioRxiv (2019)|https://www.biorxiv.org/content/10.1101/578674v1], and are largely based on methods developed in [Werling et al., Nat. Genet. (2018)|https://www.ncbi.nlm.nih.gov/pubmed/29700473].
Platform
Comments
ReferencegnomAD_Structural_Variants
Pubmed ID12345678
Accession Number(s)nssv15967914
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000047


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