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. Author manuscript; available in PMC: 2014 Nov 12.
Published in final edited form as: Biol Psychiatry. 2013 Aug 28;75(5):378–385. doi: 10.1016/j.biopsych.2013.07.022

Table 1.

Frequencies and penetrance for the SCZ-associated CNVs only. The full list of CNVs is presented in Supplementary Material, Table S4.

locus Selection coefficient Frequency % Penetrance % (95%CI)
controls SCZ DD/ASD/CM general population SCZ DD/CM/ASD Total
1q21.1 del 0.26 0.021 0.17 0.29 0.033 5.2 (2.5–11) 35 (18–67) 40 (20–78)
1q21.1 dup 0.23 0.038 0.13 0.2 0.045 2.9 (1.3–6.3) 18 (10–33) 21 (11–39)
NRXN1 del 0.23 0.02 0.18 0.18 0.028 6.4 (2.5–8.3) 26 (16–80) 33 (18–88)
3q29 del 0.83 0.0014 0.082 0.061 0.0046 18 (4.7–67) 53 (15–100) 71 (20–100)
WBS dup 0.61 0.0058 0.066 0.12 0.011 6.0 (1.4–20) 44 (13–100) 50 (14–100)
15q11.2 del 0.09 0.28 0.59 0.81 0.3 2.0 (1.4–2.7) 11 (8.2–14) 13 (9.6–17)
Prader-Willi/Angelman dup 0.5 0.0083 0.079 0.25 0.019 4.2 (1.4–12) 54 (25–100) 58 (26–100)
15q13.3 del 0.31 0.019 0.14 0.26 0.03 4.7 (2.2–9.9) 35 (19–62) 40 (21–72)
16p13.11 dup 0.13 0.13 0.31 0.3 0.14 2.2 (1.3–3.7) 8.4 (5.7–13) 10.6 (7–17)
16p11.2 distal del 0.29 0.018 0.063 0.14 0.024 2.6 (0.8–9.2) 23 (8.4–63) 26 (9.2–72)
16p11.2 dup 0.33 0.03 0.35 0.28 0.043 8.0 (4.3–14) 26 (18–43) 34 (22–57)
17q12 del 0.68 0.0054 0.036 0.087 0.009 4.0 (0.8–18) 39 (13–100) 43 (14–100)
DiGeorge/VCFS del 0.8 0 0.29 0.54 0.024 12 (6.5–18) 88 (53–100) 100 (60–100)