Chromosomal region (chr:start-end) | candidate region | aberrat. Type | # probes | reported on DGV | reported on decipher (# individuals) | confirmation on available replicate/s | selected for validation | sample(s) and variant # (N) b | genes |
---|---|---|---|---|---|---|---|---|---|
1:146638075–147,824,207 | genome (1q21) | loss | 4 | N | Y (1q21.1 recurrent microdel) | confirmed | Y | HSCR019, #21 (1) | PRKAB2, PDIA3P, FMO5, CHD1L, BCL9, ACP6, GJA5, GJA8, GPR89B, GPR89C, PDZK1P1, LOC200030, NBPF11 |
4:41746863–41,751,291 | PHOX2B | loss | 11 | N | N | confirmed | Y | HSCR403, #69 (1) | PHOX2B |
5:69288477–70,309,855 | genome (5q13) | gain | 3 | Y (freq ≥5%) | N | not excluded | N | HSCR016, #18 (1) | SERF1A, SMN2, NAIP, SMA4, GTF2H2B, LOC441081, DQ591060 |
7:84217007–84,225,649 | SEMA3A/ SEMA3D | loss | 4 | Y (freq < 1%) | N | – | Y | HSCR005, #5 (1) | (SEMA3A; SEMA3D)(SEMA3A; SEMA3D) |
8:32597644–32,598,929 | NRG1 | loss | 3 | N | N | – | Y | HSCR045, #29 (1) | NRG1 |
9:109273643–109,275,694 | 9q31 | loss | 2 | N | N | – | Y | HSCR043, #27 (1) | (TMEM38B; ZNF462)(TMEM38B; ZNF462) |
9:109336464–109,348,467 | 9q31 | gain | 6 | N | N | – | Y | HSCR018, #20 (1) | (TMEM38B; ZNF462)(TMEM38B; ZNF462) |
9:110381888–110,401,999 | 9q31 | gain | 9 | N | N | confirmed | Y | HSCR000, #1 (1) | (KLF4; ACTL7B)(KLF4; ACTL7B) |
9:112078131–112,089,193 | 9q31 | loss | 5 | N | N | confirmed | Y | HSCR195, #42 (1) | EPB41L4B |
9:113025039–113,029,430 | 9q31 | loss | 2 | Y (freq ≥5%) | Y (1) | – | N | HSCR415, #77 (1) | (TXN; TXNDC8)(TXN; TXNDC8) |
9:43659247–43,659,512 | genome (9p11) | loss (3) / gain (1) | 2 | Y (freq ≥5%) | N | confirmed | N | HSCR162, #38; HSCR403, #70; HSCR421, #78; HSCR426, #80 (4) | (SPATA31A6; CNTNAP3B)(SPATA31A6; CNTNAP3B) |
15:20848460–22,432,687 | genome (15q11) | loss (4) / gain (6) | 5 | Y (freq ≥5%) | N | not excluded | N | HSCR010, #13; HSCR033, #22; HSCR064, #33; HSCR160, #181; HSCR181, #39; HSCR231, #45; HSCR335, #54; HSCR382, #67; HSCR409, #74; HSCR414, #76 (10) | NBEAP1, POTEB, CXADRP2, OR4M2, OR4N4, OR4N3P |
15:58257674–59,009,890 | genome (15q21) | gain | 2 | N | N | – | Y | HSCR146, #35 (1) | ALDH1A2, AQP9, LIPC, ADAM10, HSP90AB4P |
16:82200334–82,202,467 | 16q23.3 | gain | 2 | N | N | – | Y | HSCR217, #43 (1) | MPHOSPH6 |
19:31954093–31,966,036 | 19q12 | loss | 5 | N | N | not evaluable | Y | HSCR481, #82 (1) | (TSHZ3; THEG5)(TSHZ3; THEG5) |
22:18661724–18,920,001 | 22q11.2 | gain | 7 | Y (freq ≥5%) | N | not evaluable | N | HSCR58, #32 (1) | AK302545, BC112340, DGCR6, PRODH |
22:20345868–20,499,789 | 22q11.2 | gain | 4 | Y (freq ≥5%) | N | not excluded | N | HSCR335, #56 (1) | TMEM191B, RIMBP3 |
22:21494163–21,704,972a | 22q11.2 | gain | 5 | N | N | confirmed | N | HSCR403, #72 (1)c | GGT2, POM121L7 |
22:22417683–23,228,483 | 22q11.2 | loss | 15 | Y (freq ≥5%) | N | – | N | HSCR014, #17 (1) | VPREB1, ZNF280B, ZNF280A, PRAME, LOC648691, GGTLC2 |
22:22781091–23,228,483 | 22q11.2 | loss | 8 | Y (freq ≥5%) | N | – | N | HSCR036, #23; HSCR183, #41 (2) | ZNF280B, ZNF280A, PRAME, LOC648691, GGTLC2 |
22:23056562–23,228,483 | 22q11.2 | loss | 3 | Y (freq ≥5%) | N | confirmed | N | HSCR403, #73 (1) | (GGTLC2; IGLL5) |
22:25672585–25,892,401 | 22q11.2 | loss (1) / gain (2) | 5 | Y (freq ≥5%) | Y (3) | not excluded | N | HSCR016, #19; HSCR228, #44; HSCR421, #79 (3) | LRP5L, CRYBB2P1 |