Table 2 Rare inherited CNVs and CNVs of unknown inheritance.
Individuals | Inherited CNVs | First and last deleted SNP | Size | Type | Genes within CNV |
|---|---|---|---|---|---|
Individual 5 | del2p13.2 | Chr2:72.623.204-72.939.279 | 316,076 bp | Deletion | EXOC6B |
Individuals 6 and 7 | dup2p13.2 | Chr2:72.882.934-73.015.587 | 132,654 bp | Duplication | EXOC6B |
Individual 8 | del4p16.2 | Chr4:5.162.593-5.427.691 | 265,099 bp | Deletion | STK32B |
Individual 9 | del7q31.33 | Chr7:126.392.369-126.439.453 | 47,085 bp | Deletion | GRM8 |
Individual 10 | dup17q12 | Chr17:33.786.176-33.968.102 | 181,927 bp | Duplication | AP2B1, LINC02001, LOC107985033, PEX12, SLFN12L, SLFN14, SNORD7 |
CNV of unknown inheritance | |||||
Individual 11 | del9p24.1 | Chr9:4.973.080-5.000.904 | 27,825 bp | Deletion | JAK2 |
