Table 2.
Distribution of 900 shared samples in the MINDDS-Connect Network by diagnostic category and OMIM.
| Shared Samples | Count |
|---|---|
| Samples with OMIM ID | 587 |
| - OMIM:611867 (22q11.2 DEL) | 269 |
| - OMIM:608363 (22q11.2 DUP) | 102 |
| - OMIM:611913 (16p11.2 DEL) | 121 |
| - OMIM:614671 (16p11.2 DUP) | 61 |
| - Other | 34 |
| Diagnosis Not Specified | 277 |
| Controls | 36 |
| Total | 900 |
The majority (587 samples) are linked to an OMIM, including 22q11.2 deletions (269) and duplications (102), and 16p11.2 deletions (121) and duplications (61). An additional 277 samples have unspecified diagnoses, and 36 are controls, highlighting the dataset's focus on 22q11.2 and 16p11.2 CNVs.