A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15789374



Internal ID19861425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:36225336..36268344hg38UCSC Ensembl
chr22:36621382..36664390hg19UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3843009
hg1943009
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4339416
Supporting Variants
Samples
Known GenesAPOL1, APOL2
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
Commentscomplex variant
ReferencegnomAD_Structural_Variants
Pubmed ID32461652
Accession Number(s)nssv15789374
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000092


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