CHROMOSOME | 2 | ||||
GENOMIC COORDINATES |
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CNV TYPE | duplication | ||||
LOCATION | exon2 | ||||
SEQUENCE OF INTEREST | exon2 | ||||
NUMBER OF REPEATS | N.A. | ||||
1 combination linked to Copy Number Variant duplication on chromosome 2 of the exon2 in the gene BMPR2 | OLI003 | ||||
1 disease linked to Copy Number Variant duplication on chromosome 2 of the exon2 in the gene BMPR2 | Idiopathic pulmonary arterial hypertension |