Table 1.
CNVs found with candidate gene approach (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) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| NOTCH2 | CS033 | deletion | 1 | 120,611,949 | 120,612,020 | 71 | 4.62 | 0.657 | NOTCH2_1 | N.D. | 0.0037 | 0.00037 (0 in East Asia) |
| CS043 | deletion | 1 | 120,539,621 | 120,612,020 | 72,399 | 8.46 | 0.722 | NOTCH2_1-4 | De novo | 0.0037 | 0.00037 (0 in East Aisa) |
|
| DSCAM | CS018 | deletion | 21 | 41,452,080 | 41,452,267 | 187 | 4.65 | 0.429 | DSCAM_25 | De novo | 0.00049 | N.A. |
| CS036 | deletion | 21 | 41,452,080 | 41,452,267 | 187 | 6.02 | 0.415 | DSCAM_25 | De novo | 0.00049 | N.A. | |
| CS050 | deletion | 21 | 41,452,080 | 41,452,267 | 187 | 5.8 | 0.468 | DSCAM_25 | Paternal | 0.00049 | N.A. | |
| CS053 | deletion | 21 | 41,452,080 | 41,452,267 | 187 | 5.45 | 0.494 | DSCAM_25 | N.D. | 0.00049 | N.A. | |
| CS064 | deletion | 21 | 41,452,080 | 41,452,267 | 187 | 6.1 | 0.463 | DSCAM_25 | N.D. | 0.00049 | N.A. | |
| SNTG1 | CS048 | deletion | 8 | 51,503,440 | 51,571,223 | 67,783 | 6.37 | 0.43 | SNTG1_13-15 | De novo | 0.0002 | 0.000046 (0 in East Asia) |
| TBX6 | CS059 | deletion | 16 | 29,674,601 | 30,199,897 | 525,296 | 644 | 0.555 | SPN_2,AC009133.19_2-3,QPRT_1-4,C16orf54_2,ZG16_2-4,KIF22_1-13,MAZ_1-5,PRRT2_2-3,PAGR1_1-3,CTD-2574D22.6_1-2,MVP_2-15,CDIPT_6-2,SEZ6L2_16-1,ASPHD1_1-3,KCTD13_6-1,TMEM219_1-4,TAOK2_2-16,HIRIP3_7-1,INO80E_1-7,DOC2A_11-2,C16orf92_2-3,FAM57B_5-1,ALDOA_8-16,PPP4C_2-9,TBX6_9-2,YPEL3_4-1,GDPD3_10-1,MAPK3_8-1,CORO1A_2-3,CORO1A_4-10 | N.D. | 0.0005 | 0.0001462 (0 in East Asia) |
| CS071 | deletion | 16 | 29,495,011 | 30,218,221 | 723,210 | 754 | 0.572 | NPIPL3_3-1,SPN_2,AC009133.19_2-3,QPRT_1-4,C16orf54_2,ZG16_3-4,KIF22_2-12,MAZ_1-5,PRRT2_2-3,PAGR1_1-3,CTD-2574D22.6_1-2,MVP_2-15,CDIPT_6-2,SEZ6L2_16-1,ASPHD1_1-3,KCTD13_6-1,TMEM219_1-4,TAOK2_2-16,HIRIP3_7-2,INO80E_1-7,DOC2A_11-2,C16orf92_2-3,FAM57B_5-1,ALDOA_8-16,PPP4C_2-9,TBX6_9-2,YPEL3_4-1,GDPD3_10-1,MAPK3_8-1,CORO1A_2-11,BOLA2B_3-1,SLX1A_1-5,SULT1A3_3-9,RP11-347C12.3_5-2 | De novo | 0.0005 | 0.0001462 (0 in East Asia) |
|
| CS078 | deletion | 16 | 29,498,516 | 30,199,897 | 701,381 | 690 | 0.578 | NPIPL3_1,SPN_2,AC009133.19_2-3,QPRT_1-4,C16orf54_2,ZG16_3-4,KIF22_2-12,MAZ_1-5,PRRT2_2-3,PAGR1_1-3,CTD-2574D22.6_1-2, MVP_2-15,CDIPT_6-2,SEZ6L2_16-1,ASPHD1_1-3,KCTD13_6-1,TMEM219_1-4,TAOK2_2-16,HIRIP3_7-2,INO80E_1-7,DOC2A_11-2,C16orf92_2-3,FAM57B_5-1,ALDOA_8-16,PPP4C_2-9,TBX6_9-2,YPEL3_4-1,GDPD3_10-1,MAPK3_8-1,CORO1A_2-10 | N.D. | 0.0005 | 0.0001462 (0 in East Asia) |
|
| CS081 | deletion | 16 | 29,498,516 | 30,199,897 | 701,381 | 645 | 0.558 | NPIPL3_1,SPN_2,AC009133.19_2-3,QPRT_1-4,C16orf54_2,ZG16_3-4,KIF22_2-12,MAZ_1-5,PRRT2_2-3,PAGR1_1-3,CTD-2574D22.6_1-2, MVP_2-15,CDIPT_6-2,SEZ6L2_16-1,ASPHD1_1-3,KCTD13_6-1,TMEM219_1-4,TAOK2_2-16,HIRIP3_7-2,INO80E_1-7,DOC2A_11-2,C16orf92_2-3,FAM57B_5-1,ALDOA_8-16,PPP4C_2-9,TBX6_9-2,YPEL3_4-1,GDPD3_10-1,MAPK3_8-1,CORO1A_2-10 | N.D. | 0.0005 | 0.0001462 (0 in East Asia) |