Table 1 List of the additional copy number variations (CNVs) identified in the family.
Case | CNV's coordinates | Size (Kbs) | Gain/Loss | Parental origin | Presence in DGV* |
|---|---|---|---|---|---|
Patient | Chr1:246,713,074-247,409,060 | 696 | Gain | maternal | partially |
Chr2: 89,135,619-89,534,147 | 398.5 | Loss | maternal | yes | |
Brother | Chr1:246,713,074-247,409,060 | 696 | Gain | maternal | partially |
Chr2: 89,135,619-89,312,590 | 177 | Loss | paternal | yes | |
Father | Chr2: 246,713,074-89,312,590 | 177 | Loss | unknown | yes |
Mother | Chr1:16,927,124-17,253,438 | 326.3 | Gain | unknown | yes |
Chr1:104,107,589-104,211,056 | 103.5 | Gain | unknown | yes | |
Chr1:246,713,074-247,409,060 | 696 | Gain | unknown | partially | |
Chr2: 89,135,619-89,534,147 | 398.5 | Loss | unknown | yes | |
Chr4:160,294,949-160,578,715 | 283.8 | Loss | unknown | no |