Table 1 Structure variants detected by Nanopore sequencing.
NO. | Chromosome location | break location | Variation interval | size | type | Population frequency | Dose sensitive genes | Pathogenicity |
|---|---|---|---|---|---|---|---|---|
1 | 12q24.33 | Chr12:130583071 | Chr12: 130,583,071–133,851,895 | 3.26 Mb | DUP | 0 | none | VUS |
2 | 22q13.33 | Chr22:49736725 | chr22:49736725–51,304,566 | 1.5 Mb | DEL | 0 | SHANK3 | Pathogenic |
