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. 2018 May 24;11:49. doi: 10.1186/s12920-018-0368-4

Fig. 1.

Fig. 1

Characterization of CNVs identified in 710 patients with DD/ID. a Diagnostic yield of CMA. pCNVs: pathogenic CNVs; VOUS: variants of uncertain significance. b Interpretation of 406 rare CNVs identified, and the number of “Gain” and “Loss” in each category. VOUS-LP: variants of uncertain significance, likely pathogenic; VOUS-LB: variants of uncertain significance, likely benign. c Size distribution of 247 pCNVs