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. 2015 Jul 2;2:15020. doi: 10.1038/hgv.2015.20

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Copyright © 2015 The Japan Society of Human Genetics

This work is licensed under a Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by-nc-sa/4.0/

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Cryptic copy-number variations (CNVs) in the patient. The black, red and green dots denote signals indicative of the normal, the increased (log ratio⩾+ 0.5) and the decreased (log ratio⩽−1.0) copy-numbers, respectively. Genomic positions correspond to the human genome reference assembly (UCSC Genome Browser, hg19, build 37). The red and green arrows indicate the duplicated and deleted regions, respectively. The names of the genes affected by the CNVs are shown in Supplementary Table S1.