Details for Copy Number Variant deletion on chromosome 2 of the exon8 12 in the gene BBS5

CHROMOSOME 2
GENOMIC COORDINATES
hg19hg38
170355189169498679
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

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