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. 2015 Jan 14;23(10):1286–1293. doi: 10.1038/ejhg.2014.282

Figure 2.

Figure 2

Four examples of maternal CNVs that alter counting statistics causing potential false-positive results. For every sample, the NIPT (top) result and the aCGH (bottom) result is shown: (a) 2.55 Mb deletion on chromosome 22q11.21 (chr21.hg19: g.18894820–21440515del); (b) 1.38 Mb duplication on chromosome 13q33.1–q33.2 (chr13.hg19: g.104397732–1057779818dup); (c) 1.73 Mb duplication on chromosome 13q31.3 (chr13.hg19: g.90201888–91936194dup); (d) 1.03 Mb duplication on chromosome 21q11.2–q21.1 (chr21.hg19: g.15485038–16515907dup). While duplications and deletions affect both z- and zz-score, the BM remains in a normal range. The sliding plots help visualize the localization of the aberration as well as the effect.