Update on the aldehyde dehydrogenase gene (ALDH) superfamily

Jackson, Brian; Brocker, Chad; Thompson, David C; Black, William; Vasiliou, Konstandinos; Nebert, Daniel W; Vasiliou, Vasilis

doi:10.1186/1479-7364-5-4-283

Human Genomics

Table S1 Known copy number variations in humans

From: Update on the aldehyde dehydrogenase gene (ALDH) superfamily

Variation ID	*ALDH*	Type	Gain/loss	Site	Sample size (variant/controls)	Chr
26310	16A1	InDel	Gain	Intron	1/1	19q13.33
26311	16A1	InDel	Gain	Intron	1/1	19q13.33
26312	16A1	InDel	Gain	Intron	1/1	19q13.33
26313	16A1	InDel	Loss	Intron	1/1	19q13.33
109892	1A1	InDel	Gain	Intron	1/1	9q21.13
102109	1A2	CNV	Loss	Intron	1/1	15q22.1
25534	1A2	InDel	Loss	Intron	1/1	15q22.1
40101	1A2	InDel	Loss	Intron	1/1	15q22.1
41386	1A2	InDel	Loss	Intron	1/1	15q22.1
45349	1A2	InDel	Loss	Intron	1/1	15q22.1
45350	1A2	InDel	Loss	Intron	1/1	15q22.1
102186	1A3	CNV	Loss	Intron	1/1	15q26.3
11819	1A3	InDel	Loss	Intron	1/36	15q26.3
25599	1A3	InDel	Loss	Intron	1/1	15q26.3
25600	1A3	InDel	Loss	Intron	1/1	15q26.3
25601	1A3	InDel	Loss	Intron	1/1	15q26.3
40124	1A3	InDel	Loss	Intron	1/2	15q26.3
42429	1A3	InDel	Loss	Intron	1/1	15q26.3
42898	1A3	InDel	Loss	Intron	1/1	15q26.3
45395	1A3	InDel	Loss	Intron	1/1	15q26.3
61482	1A3	InDel	Loss	Intron	1/1	15q26.3
68446	1L1	InDel	Loss	Intron	1/39	3q21.2
106822	1L2	CNV	Gain	Intron	1/1	12q23.3
42760	3A2	InDel	Loss	Intron	1/1	17p11.2
24787	3B2	InDel	Loss	Intron	1/1	11q13.2
44926	3B2	InDel	Loss	Intron	1/1	11q13.2
81276	5A1	InDel	Gain	Intron	1/90	6p22.2
93550	5A1	CNV	Loss	Intron	2/90	6p22.2
99466	5A1	CNV	Loss	Intron	1/1	6p22.2
33982	7A1	InDel	Gain	Intron	1/1	5q23.2
97538	9A1	InDel	Gain	Intron	1/1	1q24.1
23991	9A1	InDel	Gain	Intron	1/1	1q24.1
11004	9A1	InDel	Loss	Intron	15/50	1q24.1
35661	16A1	CNV	Gain	Part	1/1	19q13.33
114045	1A3	CNV	Gain	Part	1/30	15q26.3
72379	1A3	CNV	Loss	Part	1/39	15q26.3
4352	1L1	CNV	2G 1L	Part	3/95	3q21.2
59786	1L1	Inv	Inversion	Part	1/1	3q21.2
68445	1L1	CNV	Loss	Part	1/39	3q21.2
107014	1L2	CNV	Loss	Part	1/1	12q23.3
88379	3A2	CNV	Loss	Part	1/90	17p11.2
88381	3A2	CNV	Loss	Part	1/90	17p11.2
3140	3A2	CNV	Loss	Part	4/270	17p11.2
65982	3B2	CNV	Gain	Part	2/450	11q13.2
85827	3B2	CNV	Loss	Part	2/90	11q13.2
53128	3B2	CNV	Loss	Part	2/1064	11q13.2
3055	6A1	CNV	Gain	Part	1/270	14q24.3
66668	6A1	CNV	Loss	Part	2/450	14q24.3
6793	9A1	CNV	Loss	Part	2/50	1q24.1
3856	3B1	CNV	Gain/loss	Whole	3/270	11q13.2
113072	3B1	CNV	Gain	Whole	1/30	11q13.2
30558	3B1	CNV	Gain	Whole	1/1	11q13.2
5275	3B2	CNV	Gain	Whole	1/272	11q13.1-11q13.2
5111	16A1	CNV	Loss	Whole	25/95	19q13.33
32261	16A1	CNV	Loss	Whole	18/30	19q13.32-19q13.33
5110	16A1	CNV	Loss	Whole	4/95	19q13.33
2201	1A3	CNV	Loss	Whole	3/269	15q26.3
47939	1B1	CNV	Loss	Whole	6/2906	9p13.1
30022	3A1	CNV	Loss	Whole	2/485	17p11.2
53160	3B1	CNV	Loss	Whole	2/1064	11q13.2
2931	3B1	CNV	Loss	Whole	8/270	11q13.2
29913	3B1	CNV	Loss	Whole	1/485	11q13.2
29914	3B1	CNV	Loss	Whole	1/485	11q13.2
47969	5A1	CNV	Loss	Whole	9/2906	6p22.2

Included are the variation ID from the Database of Genomic Variants, ALDH family member, type (CNV - copy number variation with changes > 1 kb; InDel - insertions and deletions with changes 100-999 bp; inv --inversions with changes that invert the nucleotide sequence), whether the change was a loss or gain, site (intron -- change only affects an intronic region; part -- change affects one or more exons; whole -- change affects the entire gene), sample size and chromosomal location

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ISSN: 1479-7364

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