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. 2023 Sep 26;14(10):1868. doi: 10.3390/genes14101868

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© 2023 by the authors.

Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).

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Insertion and complex structure. (A) The red box in the cytoband on the top of the figure indicates the region of interest that is shown below. A 151.3 kbp segment of 3q29 was duplicated and reinserted into 17p13.3. However, the insertion site shows additional complexity where 120.2 kbp of 17p13.3 around the insertion site is also duplicated (Sample 28). (B) Two duplications 896.3 kbp and a 461.2 kbp occur in proximity. The CNV track shows that the copy number algorithm detected the two duplications. The assembly assembled two different haplotypes: one with and one without the duplications. Based on the structure of Map 2, we deduce the duplications structure as depicted in the bottom (Sample 40).