We performed CYP2D6 haplotype analysis for all 53,831 TOPMed individuals43,46. We called a total of 99 alleles (66 known and 33 novel) representing increased function, decreased function and loss of function (Supplementary Table 12). Nineteen of the known alleles and all of the novel alleles are defined by structural variants, including complex CYP2D6-CYP2D7 hybrids and extensive copy number variation, which ranged from zero to eight gene copies (Supplementary Figs. 27, 28).
