A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15967916



Internal ID19693170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:38997239..39050269hg38UCSC Ensembl
chr22:39393244..39446274hg19UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3853031
hg1953031
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4283298
Supporting Variants
Samples
Known GenesAPOBEC3B-AS1, APOBEC3C, APOBEC3D, APOBEC3F
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)nssv15967916
Frequency
Sample Size10847
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000876


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