Genomic condition | N |
---|
Controls | 104 |
Othera | 81 |
16p11.2 deletion | 45 |
15q11.2 deletion | 39 |
22q11.2 deletion | 30 |
1q21.1 duplication | 28 |
16p11.2 duplication | 25 |
15q13.3 deletion | 24 |
22q11.2 duplication | 23 |
15q13.3 duplication | 20 |
1q21.1 deletion | 18 |
NRXN1 | 16 |
TAR duplication | 13 |
16p11.2 distal deletion | 11 |
Kleefstra | 11 |
15q11.2 duplication | 5 |
- aTo preserve the confidentiality of individuals who had ND-GCs with a total count of < 5 participants with the same ND-GC in the study, we have grouped all such low frequency ND-GCs into a single group. This group contained 32 deletions and 25 duplications, with 15 other conditions being related to mixed deletions and duplications, single nucleotide variants, triplications, translocation, chromosomal trisomy, or imprinting. Chromosomal regions affected by ND-GCs in this group were: 1p21, 1p33, 1p36, 1q21, 1q42, 1q44, 2p12, 2p16, 2q11-q21, 2q13, 2q33, 2q34, 2q37, 3q28-29, 4p15, 4q28-31, 5p15, 5q23, 6p25, 6q27, 7p22, 7q11, 8q21, 8q24, 9p24, 9q34, 11q23, 12p13, 15pter-q13, 15q11, 15q11-q13, 15q13, 16p11, 16p12, 16p13, 16p21, 16q23, 17p11, 17p13, 17q12, 17q23, 17q25, 18p11, 20q13, 22q11, 22q12-q13, 22q13, Xp21, Xp22, Xp28