Table 2.

Representative copy number alleles interrogated by the pharmacogenetic panel

Sample	CNV Control	Reference	CYP2D6				CYP2C19			CYP2C9					CYP2B6
			Exon 1	Exon 5	Exon 6	3′a	Exon 2	Exon 6	Exon 9	Exon 1	Exon 7	Exon 8a	Exon 8b	Exon 9	Exon 2	Exon 3	Exon 4
HG00276	CYP2D6 *4/*5	GeT‐RM	0.581	0.600	0.537	0.596	1.046	1.042	1.081	1.016	1.091	0.921	0.975	0.986	1.071	0.963	1.043
NA02016	CYP2D6 *2xN/*17	GeT‐RM	1.514	1.529	1.449	1.450	0.988	0.971	1.081	1.029	0.957	1.037	1.063	0.995	1.043	1.099	0.965
NA17244	CYP2D6 *2x2/*4x2	GeT‐RM	1.853	1.886	1.982	1.810	0.980	0.888	0.971	0.907	1.011	0.949	1.049	0.973	0.996	1.036	0.983
NA19785	CYP2D6 *1/*13+*2A	GeT‐RM	0.975	1.438	1.333	1.394	0.982	0.966	0.969	1.025	1.013	1.023	0.994	1.032	0.997	0.971	1.002
NA16688	CYP2D6 *2/*36 + 10	GeT‐RM	1.455	1.456	1.388	0.928	1.043	0.862	1.023	0.925	1.000	0.895	0.917	1.021	1.000	1.040	1.019
NA21781	CYP2D6 *2Ax2/*68+*2	GeT‐RM	1.914	1.490	1.389	1.430	0.999	0.955	0.999	0.998	0.944	1.030	1.073	0.942	0.915	0.977	0.988
ISMMS/Sema4_4b	CYP2C19 *36	CMA	1.021	0.982	0.965	0.952	0.499	0.458	0.517	0.928	0.962	0.953	0.989	0.961	0.996	1.015	1.001
ISMMS/Sema4_7b	CYP2C19 *37	CMA	0.988	0.980	0.957	0.959	0.481	0.854	0.992	1.004	1.010	1.027	1.064	0.984	0.977	0.952	0.997
ISMMS/Sema4_9b	CYP2C duplication	CMA	0.821	0.829	0.957	0.854	1.440	1.665	1.297	1.209	1.561	1.368	1.487	1.577	0.888	0.886	0.767
NA19178	CYP2B6 *29	CMA, TaqManc	1.025	1.031	0.945	1.023	0.986	1.007	1.023	1.004	0.925	1.048	1.060	0.975	0.528	0.548	0.513

CMA, chromosomal microarray; CNV, copy number variant; GeT‐RM, Genetic Testing Reference Materials Coordination Program. ²⁴

Multiplex ligation‐dependent probe amplification copy number results: pink shading: 1 copy; no shading: 2 copies; light blue shading: 3 copies; and dark blue shading: 4 copies.

^aThe CYP2D6 downstream 3′ probe hybridizes to chr22:42521985_42522042 (GRCh37/hg19), which is ~ 450 bp downstream from CYP2D6 exon 9.

^bAs reported in Botton et al. 2019. ⁴⁰

^cAs reported in Martis et al. 2013. ³²