Table 2.
Summary of identified pathogenic and likely pathogenic copy number variants
| Samples | Sex | Band | Predicted position | Type | Size (kb) | Targeted genes | Origin | Classification |
|---|---|---|---|---|---|---|---|---|
| AU052603 | M | 1q41 | 1:216219723‐216251754 | dup | 32 | USH2A | De novo | LP |
| AU021603 | M | 1q42.2 | 1:231885622‐231955040 | del | 69 | DISC1 | Maternal | P |
| AU074903 | M | 2q14.3 | 2:128324168‐128335911 | dup | 12 | MYO7B | Maternal | LP |
| AU096303 | M | 2q24.3 | 2:166164308‐166211231 | del | 47 | SCN2A | Inherited | LP |
| AU042703 | F | 2q37.3 | 2:239969814‐240325346 | del | 356 | HDAC4 | Paternal | P |
| AU061503 | M | 4q35.2 | 4:187560826‐187649850 | del | 89 | FAT1 | Paternal | LP |
| AU053003 | M | 5p15.31 | 5:9318434‐9380185 | dup | 62 | SEMA5A | De novo | LP |
| AU052603 | M | 6p22.3 | 6:15452187‐15487823 | dup | 36 | JARID2 | De novo | LP |
| AU052703 | M | 6p22.3 | 6:15452187‐15487823 | dup | 36 | JARID2 | De novo | LP |
| AU066703 | M | 6q23.3 | 6:135778582‐135784494 | del | 6 | AHI1 | Maternal | LP |
| AU050103 | M | 7q31.1 | 7:107788021‐107834922 | dup | 47 | NRCAM | Paternal | LP |
| AU083003 | M | 7q31.32 | 7:122753538‐122769585 | del | 16 | SLC13A1 | Maternal | P |
| AU048603 | F | 7q32.3 | 7:131829828‐131908450 | dup | 79 | PLXNA4 | Unknown | LP |
| AU049703 | M | 7q32.3 | 7:131844182‐131883445 | dup | 39 | PLXNA4 | De novo | P |
| AU037803 | M | 7q35 | 7:145811453‐146537046 | dup | 726 | CNTNAP2 | De novo | P |
| AU027103 | M | 8q24.13 | 8:124810280‐124827740 | dup | 17 | FAM91A1 | Maternal | LP |
| AU036305 | M | 8q24.13 | 8:124810280‐124827740 | dup | 17 | FAM91A1 | Maternal | LP |
| AU090603 | M | 8q24.3 | 8:145057050‐145058649 | dup | 2 | PARP10 | Maternal | LP |
| AU051103 | M | 9p24.1 | 9:6755641‐7128286 | del | 373 | KDM4C | Maternal | P |
| AU049803 | M | 10q21.3 | 10:69407123‐69457949 | dup | 51 | CTNNA3 | Paternal | LP |
| AU077403 | M | 15q11.2–12 | 15:25074895‐27186686 | dup | 2112 | ATP10A, GABRB3, SNRPN, UBE3A | Maternal | P |
| AU096503 | M | 15q13.3 | 15:32320686‐32455586 | dup | 135 | CHRNA7 | Unknown | P |
| AU032303 | M | 15q13.3 | 15:32320686‐32462434 | dup | 142 | CHRNA7 | Maternal | P |
| AU044903 | M | 15q13.3 | 15:32320686‐32462434 | dup | 142 | CHRNA7 | Maternal | P |
| AU078903 | M | 15q25.3 | 15:88669452‐88801962 | dup | 133 | NTRK3 | Maternal | P |
| AU053003 | M | 16q24.1 | 16:85667470‐85709862 | dup | 42 | GSE1 | Inherited | LP |
| AU035503 | M | 20p12.1 | 20:13974146‐14034142 | dup | 60 | MACROD2 | Unknown | LP |
| AU033603 | F | 22q11.21 | 22:19742226‐19957548 | del | 215 | COMT, GNB1L, TBX1 | De novo | P |
Note. LP: likely pathogenic; P: pathogenic.