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Fig. 2 | Genome Biology

Fig. 2

From: Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

Fig. 2

Classifying 16 recurrent subclasses of large, complex SVs in the human genome. At liWGS resolution, we identified 16 recurrent classes of cxSV, defined here as non-canonical rearrangements involving two or more distinct SV signatures or at least three linked breakpoints. We validated 97.4% (150/154) of all cxSV sites assessed by at least one assay. Each participant harbored a median of 14 cxSVs at liWGS resolution (range: 6–23 cxSVs per participant). We identified 289 distinct cxSVs across 686 participants, totaling 9666 cxSV observations. Each row represents a subclass of cxSV, with columns representing the subclass abbreviation, number of distinct variants discovered, validation rate, total number of observed variants across all participants, the percentage of participants that were found to harbor at least one such variant in their genome, the median size of all variants in that subclass, each subcomponent SV signature that comprises the class, a linear schematic of each class of cxSV, and a simulated example of the copy-number profile as would be observed by chromosomal microarray or WGS

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