Fig. 1

Defining and describing the CNVRs in terms of within-technology support, read depth fold change evidence, size and long-read intrinsic score distribution. A. CNVRs are defined by outermost upstream and downstream breakpoints for a set of CNVs of the same type. The within-technology support is defined as “single” when a CNVR is derived from a single CNV call of one of the datasets and otherwise as “multi”; B. Distribution of long-read CNVRs according to their length and the long-reads score bins (in grey, green and beige) and within-technology support (x-axis); C. For each CNV call a read depth fold change (DFC) score cutoff is used to define high quality (HQ) deletion (top) and duplication (bottom) with respect to support for a given CNV in a chosen short-read alignment. CNV calls that do not meet the defined DFC score thresholds are defined as low quality (LQ); D. Density plot (counts) for deletions (indicated with negative values on the x-axis) and duplications (positive values on the x-axis), across CNV call sizes (x-axis ticks), DFC score-based quality bins (left and right panel) with arrays shown in red, short reads in blue and long reads in grey, green and beige (for the long-read score binning as in B). The “long-read score <1” (lr. <1 in gray) category is omitted in the right panel for scaling purposes. Technologies: array - array, lr - long reads, sr - short reads