Table 3.
Known genomic disorders identified based on CNV findings
| Chromosomal disorder | Number identified |
|---|---|
| 1p36 microdeletion syndrome | 1 |
| 1q21.1 duplication syndrome | 3 |
| 1q43q44 microdeletion syndrome | 1 |
| 2q33.1 deletion syndrome (Glass syndrome; includes SATB2) | 1 |
| 2q37 deletion syndrome | 4 |
| 3q29 deletion syndrome | 1 |
| Cri du chat syndrome (5p15 deletion) | 1 |
| Williams-Beuren syndrome (7q11.23 deletion) | 2 |
| Jacobsen syndrome (11q deletion syndrome) | 1 |
| Prader–Willi syndrome/Angelman syndrome (15q11q13 deletion) | 2 |
| 15q11q13 duplication syndrome | 8 |
| 15q13.3 deletion syndrome (includes OTUD7A and CHRNA7) | 3 |
| ART-16 syndrome (16p13.3 terminal deletion) | 1 |
| 16p13.11 deletion syndrome | 3 |
| 16p13.11 duplication1 | 2 |
| 16p12.1 microdeletion1 | 2 |
| 16p11.2p12.2 microduplication syndrome | 1 |
| Distal 16p11.2 deletion (includes SH2B1) | 1 |
| 16p11.2 deletion syndrome (proximal, BP4-BP5) | 3 |
| 16p11.2 duplication syndrome (proximal, BP4-BP5) | 1 |
| Potocki-Lupski syndrome (17p11.2 duplication; includes RAI1) | 1 |
| 17q12 duplication syndrome | 2 |
| 22q11.2 deletion syndrome (Velo‐cardio‐facial syndrome/DiGeorge syndrome) | 4 |
| 22q11.2 duplication syndrome | 1 |
| Distal 22q11.2 deletion (D-E) | 1 |
| Phelan-McDermid syndrome (22q13.3 deletion; includes SHANK3) | 3 |
| Xp22.31 deletion | 2 |
1Reported in Decipher but with lesser evidence reported in ClinGen; these PDV were reclassified as not potentially damaging in the additional analysis