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. 2022 Nov 19;13:7115. doi: 10.1038/s41467-022-34810-8

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Fig. 4 — a 6 kbp multi-copy event (duplication and triplication) with a smaller 2.2 kbp deletion (red) in a subset of copies. b Reconstruction of the AluS-mediated mCNV TEMR breakpoint surrounding each 6 kbp copy shows 1 bp microhomology (red). Arrows (blue and yellow) indicate the source of the sequence in reference (REF) and sample (ALT). The dashed red line is indicative of the breakpoint junction. c Reconstruction of the 2 kbp inner-copy deletion shows 59 bp of near-perfect homology (red bases). d Copy number status of the individuals containing the triplication found using ddPCR, read-depth analysis and assembly. TEMR, transposable element-mediated rearrangement; REF, reference genome (GRCh38).