Fig. 4.

Positions and proportions of CNVs detected by TS. A Barplot illustrates the distribution of all 1376 manually curated CNVs derived from TS in the extension cohort (n = 342). Chromosomal CNVs spanning one arm or a whole chromosome are depicted on the left of each x-axis, while focal SNVs are shown to the right of the x-axis (according to arrows). The number of patients with a specific aberration is depicted according to the size of the event (yellow: large CNVs > 10 Mb; red: small CNVs ≤ 10 Mb). Chromosome 7 is displayed in blue. B To the right, genomic positions of chr7 covered by CNVs (deletions in blue, gains in red) identified in 188 AML patients (x-axis, excluding 154 cases with monosomy 7). Marked commonly deleted regions (CDRs)1–4 are adapted from Baeten et al. [16]. Potential genes of interest and their genomic positions are shown to the right. To the left, the frequency of deletions across the chromosome and recurrent breakpoint clusters, with the respective number of times a specific breakpoint occurred as a starting (black) or ending point of a CNV segment (red), are shown