| CHROMOSOME | 12 | ||||
| GENOMIC COORDINATES |
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| CNV TYPE | repeat | ||||
| LOCATION | None | ||||
| SEQUENCE OF INTEREST | CAG | ||||
| NUMBER OF REPEATS | N.A. | ||||
| 1 combination linked to Copy Number Variant repeat on chromosome 12 of the CAG in the gene ATXN2 | OLI578 | ||||
| 2 diseases linked to Copy Number Variant repeat on chromosome 12 of the CAG in the gene ATXN2 | Frontotemporal dementia; Amyotrophic lateral sclerosis |