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. 2014 Aug 8;51(10):677–688. doi: 10.1136/jmedgenet-2014-102588

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Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions

This is an Open Access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/

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Comparison between true versus false positive status of small copy number variants (CNVs) detected by chromosomal microarray analysis (CMA) and their size, confidence value, marker count and marker count per kb. (A) False positive CNVs were significantly smaller in size (3–181 kb, median 19 kb, mean 45.3 kb) than true CNVs (2–492 kb, median 131 kb, mean 164.7 kb) (p<0.0001). (B) There was also a significant difference between the two groups regarding their confidence values (mean of 88.9% vs 91.9%, p<0.0001) and (C) marker count (median of 20 vs 96, mean of 39.9 vs 163.8, p<0.0001). (D) No significant difference was observed for the marker count per kb within the CNV (1.5±1.14 vs 1.1±0.67, p=0.1).