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. 2017 Aug 8;7:7512. doi: 10.1038/s41598-017-06387-6

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© The Author(s) 2017

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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Schematic representation of the MCDR3 locus which is refined to a 39 kb shared genomic region (GRCh37/hg19 chr5:4396925–4436534). The shared sequence between a previously reported duplication and the two novel SVs identified in this study is located in a large gene desert, downstream of IRX1 and upstream of ADAMTS16, 800 kb and 693.9 kb from their respective transcription start sites. Publicly available NGS datasets were queried for informative data on chromatin accessibility and 3 sites were found active from human gestation day 72 to 105 in fetal retina, suggestive of functional acting elements within this site.