A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15789344



Internal ID19861394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17643912..17646735hg38UCSC Ensembl
chr22:18126678..18129501hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg382824
hg192824
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4568443
Supporting Variants
Samples
Known GenesBCL2L13
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)nssv15789344
Frequency
Sample Size10847
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.016128


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