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. 2019 Mar 5;9:3587. doi: 10.1038/s41598-019-39667-4

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© The Author(s) 2019

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 license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license 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 license, visit http://creativecommons.org/licenses/by/4.0/.

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Reconstruction of the integration site rearrangements in the chromosome 10 of the AE54SL cell line. (A) Copy number and structural variations for the chromosome 10 visualized by SplitThreader⁵¹. Copy number segmentation is based on coverage averages in 10 kbp bins. (B) A parsimonious model that partially explains the copy number and rearrangements found in the AE54SL chromosome 10. Assuming that at some point there was chromosome 10 aneuploidy (see Supplementary Fig. 4), the observed DOC indicates the presence of one intact chromosome, while two or even 4 more copies formed isochromosomes. Such event(s) would create a partial monosomy of the 6 Mb region at the 5′ end of chromosome 10 and a trisomy of the remaining ~8.7 Mb portion. At least one putative isochromosome has the 354 bp unique loop (colored blue) and ~300 kb deletion (mR) in one arm.