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DeWilde S, Carey IM, Richards N, Hilton SR, Cook DG

78,80,81,82 Approximately 10% of them are copy number variations (CNVs) that disrupt protein coding, including chromosomal duplications, large deletions, inversions, and translocations, such as 1q21.1 duplications or deletions, 3q29 deletions, 7q11.23 duplications, 15q11-q13 deletions, 15q13.3 microdeletions, 15q11-13 duplications, 17q12 deletions, 22q11.2 deletions and 22q13.33 duplications or deletions