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. 2021 Sep 14;11:18258. doi: 10.1038/s41598-021-97764-9

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© The Author(s) 2021

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.

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Complex rearrangement in VC109 on LGIII. (A) Schematic representation of the complex rearrangement combining one inverted tandem duplication (red), one direct tandem duplication (orange), and two deletions (blue) along LGIII around 10 Mb. (B) IGV screenshot for the region overlapped by the complex rearrangements. (C) PCR gels. 1 = Inverted tandem duplication III:10,362,573–10,370,888; 2 = Deletion III:10,366,492–10,370,879; 3 = Direct tandem duplication III:10,366,037–10,375,446; 4 = Deletion III:10,368,666–10,371,166. (D) Sequences obtained with Sanger sequencing displaying regions surrounding breakpoint junctions for the two duplications of the complex rearrangement. The blue and red sequences represent the sequence surrounding the breakpoints and coming from parts of the reference genome away from each other.