Table 2.
Recessive CNVs unique in patients with CS (N.D., not determined; N.A., not applied).
| Gene | Patient | Type | Chr | Start | End | Size (bp) | Bayes Factor | Reads Ratio (Observed/Expected) |
Exons Annotation (hg19) (Gene_exon) | Inheritance Pattern | Highest Frequency in DGV (Sample Size > 100) | gnomAD_ Structural Variants Frequency (Heterozygous Loss) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NBPF20 | CS047 | deletion | 1 | 148,261,458 | 148,262,366 | 908 | 5.27 | 0.04 | NBPF20_98-99 | De novo | 0 | 0 (0 in East Asia) |
| FAM138C | CS048 | deletion | 9 | 35,061 | 35,519 | 458 | 6.51 | 0 | FAM138C_1-2 | * De novo | 0.0074 | N.A. |
| DHX40 | CS004 | deletion | 17 | 57,656,834 | 57,657,240 | 406 | 5.38 | 0 | DHX40_9-10 | N.D. | 0.0000922 | 0.0025 (0.008152 in East Asia) |
| CS035 | 4.91 | N.D. | ||||||||||
| CS043 | 6 | * De novo | ||||||||||
| CS050 | 7.23 | * De novo | ||||||||||
| CS053 | 7.02 | N.D. | ||||||||||
| CS057 | 6.29 | De novo |
* The CNV is also not present in the healthy siblings.