Features of outlier-associated SVs. (A) Location of outlier-associated SVs relative to their associated outlier gene and the number of SV/outlier gene associations identified in each category. Percentages indicate the fraction of outlier/SV pairs found at each relative location compared with the total number of SV/outlier gene associations. Note that this definition allows one SV to be associated with multiple outlier genes, and thus, the SV is counted in multiple categories. Gene diagrams provide examples of possible SV location, shown in red, relative to the outlier gene. (B,C) Odds ratio (OR) of being outlier-associated by SV type (B) and SV size (C) for the SV category of interest compared with all other SVs. Note that BNDs were excluded from the size OR calculations owing to their ambiguous nature and thus size. (D) Distribution of SV sizes for singleton SVs <1 Mb identified in European individuals that were used in outlier analyses. Panels depict size distributions for all European-cohort singletons, control-associated singletons, multitissue outlier-associated singletons, and tissue-restricted outlier-associated singletons.
