Table 1

Overview of detected aberrations verified by FISH or quantitative PCR

Patient	CNV type	Location	Origin	5′ flanking SNP (location in bp)	3′ flanking SNP (location in bp)	Minimum size (Mb)	SNPs	CNVF			CNAG		Reported
Patient	CNV type	Location	Origin	5′ flanking SNP (location in bp)	3′ flanking SNP (location in bp)	Minimum size (Mb)	SNPs	A 1	A 2		Xba	Hind	Reported
*Parents were not available for investigation.
+, Aberration indicated by the respective analysis; 0, aberration not indicated by the respective analysis.
Location is given using coordinates from National Center for Biotechnology information assembly 35 of the human genome sequence.
104	Deletion	1p32.2–31.1	*	rs10493211 (56728933)	rs10493473 (70560236)	14.00	814	+		+	+	+
77	Deletion	5q14.3–15	De novo	rs10514301 (87975410)	rs9314105 (93668872)	5.60	234	+		+	+	+
96	Deletion	6q16.1–21	De novo	rs726488 (99645914)	rs2010315 (112529340)	12.80	577	+		+	+	+
45	Deletion	7p22.3–22.2	De novo	rs10487884 (2678041)	rs314593 (4257670)	1.50	76	+		+	+	+	Friedman¹² (3.6 Mb)
42	Deletion	16p12.1	De novo	rs999499 (24061164)	rs10521131 (24919925)	0.70	22	0		+	0	0
72	Duplication	17p11.2	De novo	rs8074464 (16475319)	rs10512425 (20564580)	3.70	31	+		+	0	+	Potocki²⁰
12	Deletion	17q21.31	De novo	rs10491142 (40523389)	rs3912061 (41520916)	0.40	31	+		+	0	+	Multiple^7,^21–²³
5	Deletion	18q21.2	De novo	rs4800947 (50552638)	rs784395 (51742365)	1.20	62	+		+	+	0
85	Deletion	19p13.11–p12	De novo	rs876982 (18643377)	rs10518280 (23846921)	4.50	65	+		+	+	+
85	Duplication	19q13.11–q13.12	De novo	rs7249990 (39870683)	rs7255938 (42606994)	2.70	31	+		+	+	0
100	Deletion	21q22.11–q22.12	De novo	rs8129832 (32329260)	rs10483024 (35362570)	3.00	116	+		+	+	+
63	Duplication	1p36.13	Maternal	rs794230 (18034558)	rs10489573 (18430508)	0.44	10	+		+	0	0	Loss, Wong²⁴
9	Duplication	2p22.3	Paternal	rs458628 (32427049)	rs1902030 (33232242)	0.63	31	+		+	+	0	Gain, Simon-Sanchez²⁵
55, 85	Deletion	2q13	Paternal	rs951954 (109816880)	rs1002016 (111333143)	0.13	4	0		+	0	0	Gain, Redon²⁶
51	Deletion	2q32.1	Paternal	rs9288111 (185889502)	rs850889 (186033754)	0.13	5	0		+	0	0
24	Deletion	3q24	Maternal	rs6770324 (146954460)	rs3804663 (147293301)	0.23	20	0		+	0	0	Loss, Redon²⁶
61	Duplication	5q33.2	Maternal	rs153431 (153629119)	rs1875473 (153840497)	0.15	7	+		+	0	0
57	Deletion	5q34	Maternal	rs10515859 (162777146)	rs6864913 (164840549)	2.00	120	+		+	+	+	Menten²⁷
29	Deletion	7q31.1	Maternal	rs1014799 (111153998)	rs2249151 (111580754)	0.35	23	0		+	0	+	Gain, Simon-Sanchez²⁵
92	Deletion	9p23	Maternal	rs983282 (11834120)	rs1416572 (12177104)	0.20	21	0		+	+	0	Loss, Redon²⁶
56	Deletion	9p21.1	Paternal	rs16915373 (29850957)	rs6476179 (29975815)	0.02	7	0		+	+	0	Redon²⁶
31	Duplication	11p11.2	Paternal	rs3913231 (49516614)	rs1580785 (51150171)	0.85	23	+		+	0	+	Loss, Redon²⁶
41	Deletion	13q21.33	Maternal	rs10492467 (70639393)	rs1841359 (71488074)	0.80	59	+		+	+	+	Redon²⁶
102	Deletion	19q13.2	Paternal	rs9304608 (47889421)	rs10518262 (48326010)	0.12	3	0		+	0	0	Loss, Redon,²⁶ Simon-Sanchez²⁵
12	Deletion	22q11.23	Maternal	rs10483117 (23956820)	rs3730109 (24399560)	0.26	9	0		+	0	+	Redon²⁶