TABLE 6.

Accuracy calls for CYP2D6 CNV assay on QuantStudio3. Calls highlighted in yellow indicate initial discrepancies in copy number reported from the get-RM project versus that observed in this CNV assay.

Sample number	Reported CYP2D6 diplotype	CNV assay results
		Exon 9 copies	Intron 6 copies	Intron 2 copies	TP	TN	FP	FN
1	*1/*1	2	2	2	0	3	0	0
2	*2A/*2A	2	2	2	0	3	0	0
3	*1/*3	2	2	2	0	3	0	0
19	*1/*2A	2	2	2	0	3	0	0
99	*1/*1	2	2	2	0	3	0	0
125	*1/*1	2	2	2	0	3	0	0
126	*2A/*4	2	2	2	0	3	0	0
127	*1/*4	2	2	2	0	3	0	0
143	*2XN/*17	3	3	3	3	0	0	0
144	*4XN/*41	3	3	3	33	0	0	0
145	*35/*41	2	2	2	0	3	0	0
146	*10/*10	2	4	4	0	1	2	0
147	*2/*10 (*2A/*36+*10B)	2	3	3	2	1	0	0
148	*1/*10	2	3	3	0	1	2	0
149	*2/*17	2	2	1	1	2	0	0
150	*1/*2	2	2	2	0	3	0	0
151	*1/*10 (*1A/*36+*10B)	2	3	3	2	1	0	0
152	*1/*2	2	2	2	0	3	0	0
153	*1/*4	2	2	2	0	3	0	0
154	*1/*41	2	2	2	0	3	0	0
155	*1XN/*2	3	3	3	3	0	0	0
156	*2/*2XN	3	3	3	3	0	0	0
157	DUP/*4/*2A	4	>4	4	6	0	0	0
158	*4/*35	2	2	2	0	3	0	0
159	*4/*5	1	1	1	3	0	0	0
160	*4/*41	2	3	3	0	1	2	0
161	*2/*3	2	2	2	0	3	0	0
162	*1/*1XN	3	3	3	3	0	0	0
163	*1/*6	2	2	2	0	3	0	0
164	*10/(*10[*36]) (*36+*10/*36+*10)	2	4	4	2	1	0	0
165	duplication	4	4	4	3	0	0	0
166	*17/*29	2	2	2	0	3	0	0
167	*1/*1	2	2	2	0	33	0	0
168	*1/*5	1	1	1	33	0	0	0
169	*1/*35	2	2	2	0	3	0	0
170	*1/*9	2	2	2	0	3	0	0
171	*1/*41	2	2	2	0	3	0	0
172	*1/*5	1	1	1	3	0	0	0
173	*2/*5	1	1	1	9	0	0	0
174	*5/*9	1	1	1	3	0	0	0
175	*1/*1	2	2	2	0	3	0	0
176	*1/*41	2	2	2	0	3	0	0
—				Total: 225	112	107	6	0