Table 1.
Summary of CNV calls for the Old Order Amish (n = 375) and controls (n = 1897)
| Total | Deletions | Duplications | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| Amish CNVs | Amish Inherited CNVs | Controls | Amish CNVs | Amish inherited CNVs | Controls | Amish CNVs | Amish inherited CNVs | Controls | ||
| Total Number | All Samples | 18986 | 6345 | 77205 | 10942 | 4154 | 51138 | 8044 | 2191 | 26067 |
| Affected | 3844 | 1380 | - | 2216 | 905 | - | 1628 | 475 | - | |
| Unaffected | 12191 | 3962 | - | 6922 | 2581 | - | 5269 | 1381 | - | |
| Average Size (bp) | All Samples | 36123 | 42064 | 29697 | 31124 | 32701 | 23768 | 42924 | 59815 | 41328 |
| Affected | 41123 | 44572 | - | 39802 | 33575 | - | 42921 | 65523 | - | |
| Unaffected | 34363 | 39932 | - | 29072 | 32093 | - | 41315 | 54581 | - | |
| Burden (per individual) | All Samples | 50.6 | 23.2 | 40.7 | 29.2 | 15.2 | 27.0 | 21.6 | 8.2 | 13.7 |
| Affected | 49.9 | 23.4 | - | 28.8 | 15.3 | - | 21.1 | 8.1 | - | |
| Unaffected | 52.1 | 23.7 | - | 29.6 | 15.5 | - | 22.5 | 8.3 | - | |
Total number, average size, and burden of CNVs was calculated for all Amish CNVs, inherited Amish CNVs, and control CNVs. CNVs were analyzed together, and as deletion and duplication events separately.