Table 1 Summary of de novo and rare inherited CNVs of interest in ASD probands
From: Copy number variation in Han Chinese individuals with autism spectrum disorder
Sample ID | Cytoband | Coordinates (hg19) | Type of CNV | Genes affected | Inheritance |
|---|---|---|---|---|---|
683-3 (female) | 2q37.1 | Chr2: 233,651,280-233,673,273 | 22-kb deletion | GIGYF2 | De novo |
527-3 (male) | 4q28.1 | Chr4: 124,063,146-125,045,116 | 982-kb duplication | SPRY1, SPATA5 | De novo |
517-3 (female) | 16p13.3 | Chr16: 843,861-1,162,728 | 319-kb duplication | 7 genes | De novo |
16p13.3 | Chr16: 2,088,391-2,415,016 | 327-kb duplication | 15 genes | De novo | |
503-3 (male) | 16p11.2 | Chr16: 28,819,029-29,051,191 | 232-kb deletion | 9 genes | De novo |
692-3 (male) | 17p13.3, 17p13.2 | Chr17: 2,455,643-3,449,869 | 994-kb duplication | 16 genes | De novo |
567-3 (male) | Xp21.1 | ChrX: 31,805,650-31,959,887 | 154-kb deletion | DMD | De novo |
611-3 (male) | Xp21.1 | ChrX: 32,548,066-32,603,018 | 55-kb deletion | DMD | De novo |
552-3 (male) | Xq13.2 | ChrX: 72,319,907-72,353,391 | 33-kb deletion | NAP1L6 | De novo |
694-3 (male) | 4q22.2 | Chr4: 94,144,621-94,172,410 | 28-kb deletion | GRID2 | Maternal |
9p21.1 | Chr9: 28,491,679-28,630,598 | 139-kb deletion | LINGO2 (intronic) | Paternal | |
511-3 (male) | 9p21.1 | Chr9: 28,464,218-28,596,286 | 132-kb deletion | LINGO2 | Maternal |
686-3 (male) | 10p12.33 | Chr10: 18,240,592-18,313,842 | 73-kb deletion | SLC39A12 | Paternal |