CHROMOSOME | 2 | ||||
GENOMIC COORDINATES |
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CNV TYPE | deletion | ||||
LOCATION | exon8_12 | ||||
SEQUENCE OF INTEREST | exon8_12 | ||||
NUMBER OF REPEATS | N.A. | ||||
1 combination linked to Copy Number Variant deletion on chromosome 2 of the exon8 12 in the gene BBS5 | OLI621 | ||||
1 disease linked to Copy Number Variant deletion on chromosome 2 of the exon8 12 in the gene BBS5 | Bardet-Biedl syndrome |