| CHROMOSOME | 2 | ||||
| GENOMIC COORDINATES |
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| CNV TYPE | deletion | ||||
| LOCATION | whole_gene | ||||
| SEQUENCE OF INTEREST | whole_gene | ||||
| NUMBER OF REPEATS | N.A. | ||||
| 3 combinations linked to Copy Number Variant deletion on chromosome 2 of the whole gene in the gene NPHP1 | OLI616; OLI622; OLI623 | ||||
| 1 disease linked to Copy Number Variant deletion on chromosome 2 of the whole gene in the gene NPHP1 | Bardet-Biedl syndrome |