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. 2011 Mar 11;88(3):344–350. doi: 10.1016/j.ajhg.2011.01.018

Table 2.

CNV Frequency of Individuals at the DPY19L2 Locus and Expected Prevalence of Homozygotes

Pinto et al.11 de Smith et al.10 Conrad et al.9 Itsara et al.13 Shaikh et al.12 Total Frequency Expected Homozygous Deletion Frequency
Gain 2 1 4 22 35 64 1/76
Loss (Htz) 0 3 0 5 14 22 1/222 1/197,136
Population 506 50 450 1854 2026 4886