Cytoband | Location | Size | Gene Names | ISCA Disease | N samples |
---|---|---|---|---|---|
2q31.1 | 176,947,808∓176,989,433 | 41,626 | EVX2, HOXD13, HOXD12, HOXD11, HOXD10, HOXD9 | Synpolydactyly, | 9 |
11q13.2 | 67,376,862∓67,379,713 | 2,852 | NDUFV1 | Leukodystrophy | 9 |
Xq28 | 153,627,293∓153,671,782 | 44,490 | RPL10, SNORA70, DNASE1L1, TAZ, ATP6AP1, GDI1 | X-linked mental retardation | 9 |
10q21.3 | 64,572,947∓64,575,525 | 2,579 | EGR2 | Autism | 8 |
14q32.2 | 101,291,322∓101,291,820 | 499 | - | MEG3/NA | 8 |
20q13.32 | 57,425,665∓57,427,372 | 1,708 | GNASAS, GNAS | Albright hereditary osteodystrophy, GNAS_ICRegion/NA | 8 |
Xq13.1 | 70,460,258∓70,473,291 | 13,034 | BCYRN1, ZMYM3 | X-linked mental retardation | 8 |
Xq28 | 153,601,110–153,627,292 | 26,183 | FLNA, EMD | X-linked mental retardation | 8 |
2q31.1 | 172,950,396∓172,953,729 | 3,334 | DLX1 | Split hand and foot malformation 5 | 7 |
2q31.1 | 176,989,434∓177,009,843 | 20,410 | HOXD8, HOXD-AS2, LOC401021 | Synpolydactyly | 7 |
7q11.21 | 62,501,593∓62,506,726 | 5,134 | - | - | 7 |
8p11.1 | 43,371,449∓43,383,206 | 11,758 | - | - | 7 |
14q32.2 | 101,290,932∓101,301,680 | 10,749 | MEG3 | MEG3/NA | 7 |
19q13.43 | 57,349,301∓57,351,077 | 1,777 | ZIM2, PEG3 | PEG3/NA, PEG3_ICRegion/NA, ZIM2/NA | 7 |
Xp11.23 | 48,324,187∓48,340,068 | 15,882 | SLC38A5, FTSJ1 | - | 7 |
Xq13.1 | 70,347,097∓70,352,509 | 5,413 | MED12 | Opitz-Kaveggia | 7 |