Figure 2. Unique features are shared by dnCNVs identified from the five subjects; related to Data S1 and Table S5.
(A) Proportions of tandem duplication (TD), insertional double duplication (IDD), complex triplication (CT), deletion (DEL), and unresolved rearrangement structure (N/A) among MdnCNV events. (B) A representative microhomeology from breakpoint BAB3097-chr5-1 (Data S1C and the first row in Table 2). The junction sequence is aligned with two reference sequences, with the red and blue colors indicating their origins from the colored rectangles above them. Microhomeology is highlighted in yellow. The junction sequence shares perfect identity to the blue reference, but not to the red reference, suggesting that MMBIR initiates from the blue end and invades into the red end. (C) Density plots illustrating that dnCNVs identified in this study tend to be large in size.
