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. 2018 Oct 8;21(5):1121–1130. doi: 10.1038/s41436-018-0295-y

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© The Author(s) 2018

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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Fig. 1 — ZC4H2 de novo deletion in case P1. a Normalized sequencing depth for proband and her father. b Location of discordant read-pairs (>1000 bp insert size), where green dots represent the location of paired ends in a discordant read-pair, the gray shaded area represents the total number of discordant read-pairs spanning a given genomic segments. c Annotation of the original Canvas call boundaries as well as the location of the copy-number variant (CNV) on chromosome X.