Table 1.
De Novo SVs
| hg19 Coordinatesa | Type | Size (bp)b | Locus | Mechanism | Parental Origin | ID | Status | Gender |
|---|---|---|---|---|---|---|---|---|
| chr3: 37,476,966–37,476,979 | AluYb8 | 14|134 | C3orf35 (3′ UTR) | MEI | paternal | 74-0115-01 | ASD | female |
| chr13: 107,803,685–107,803,696 | AluYa5 | 12|277 | intergenic | MEI | NA | REACH000120 | ASD | male |
| chr7: 112,115,899–112,123,778 | complex | 70|454|128 | IFRD1, LSMEM1 | MMBIR | NA | REACH000141 | ASD | male |
| chr14: 61,548,613–61,552,405 | complex | 23|140 | SLC38A6 (intron 16/16) | MMBIR | paternal | REACH000182 | ASD | male |
| chr2: 74,482,718–74,511,562 | deletion | 28,844 | SLC4A5 (5/32 exons) | MMBIR | NA | REACH000239 | ASD | male |
| chr6: 93,142,763–93,142,954 | deletion | 192 | intergenic | NHEJ | NA | REACH000001 | ASD | male |
| chr10: 69,823,502–69,823,806 | deletion | 305 | HERC4 (intron 3/25) | MMBIR | NA | REACH000288 | ASD | male |
| chr12: 117,519,631–117,537,968 | deletion | 18,338 | TESC (1/8 exons) | NHEJ | paternal | REACH000163 | ASD | male |
| chr13: 21,131,642–21,135,198 | deletion | 3,557 | intergenic | NAHR | paternal | REACH000292 | ASD | male |
| chr22: 36,969,581–37,097,776 | deletion | 128,195 | CACNG2 (1/4 exons) | NHEJ | paternal | REACH000001 | ASD | male |
| chrX: 148,682,301–148,736,750 | deletion | 54,450 | TMEM185A (4/7 exons) | NAHR | maternal | REACH000145 | ASD | male |
| chr15: 22,701,351–28,574,000 | duplication | 5,872,650 | 15q11.2–13.1 (PWS/AS)c | NAHR | maternal | REACH000316 | ASD | female |
| chr20: 29,804,201–30,388,100 | duplication | 583,900 | 20q11.21 (18 genes) | NAHR | paternal | REACH000141 | ASD | male |
| chr16: 60,410,404–61,926,470 | inversion | 1,516,067 | CDH8 (9/12 exons) | NHEJ | NA | L7H6W_01 | ASD | male |
| chr14: 58,985,087–58,985,102 | AluYa5 | 16|312 | KIAA0586 (intron 30/31) | MEI | NA | REACH000176 | control | female |
| chr5: 111,391,882–111,398,120 | deletion | 6,238 | intergenic | NHEJ | maternal | REACH000300 | control | female |
| chr6: 100,911,772–100,916,248 | deletion | 4,476 | SIM1 (upstream) | NHEJ | NA | REACH000162 | control | male |
| chr12: 19,257,899-19,293,874 | deletion | 35,975 | PLEKHA5 (3/35 exons) | NHEJ | maternal | REACH000076 | control | female |
| chr12: 98,296,358–98,297,335 | deletion | 977 | intergenic | NHEJ | NA | REACH000236 | control | male |
Abbreviations are as follows: AS, Angelman syndrome; ASD, autism spectrum disorder; NA, not available; MEI, mobile-element insertion; MMBIR, microhomology-mediated break-induced replication; NAHR, non-allelic homologous recombination; NHEJ, non-homologous end joining; and PWS, Prader-Willi syndrome.
a
Coordinates are based on breakpoint sequence alignments; however, coordinates for three NAHR-mediated SVs (15q11.2–13.3, 20q11.21, and Xq28) are based on ForestSV boundaries.
b
Pipes (|) separate the sizes of individual elements within complex structural variants; further details can be found in Figure 4 and Table S5.
c
Critical region for PWS and AS.