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Items: 1 to 20 of 317

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7147971copy number variation1nstd232human GRCh37.p13 chr2: 153,515,523-153,515,605 , GRCh38.p12 chr2: 152,659,009-152,659,091 PRPF40A
    nsv7147261insertion1nstd232human GRCh37.p13 chr2: 153,537,850-153,537,850 , GRCh38.p12 chr2: 152,681,336-152,681,336 PRPF40A
    nsv7143850insertion1nstd232human GRCh37.p13 chr2: 153,527,899-153,527,899 , GRCh38.p12 chr2: 152,671,385-152,671,385 PRPF40A
    nsv7138764copy number variation1nstd232human GRCh37.p13 chr2: 153,515,702-153,515,781 , GRCh38.p12 chr2: 152,659,188-152,659,267 PRPF40A
    nsv7053087inversion1nstd229human GRCh38 chr2: 152,709,601-152,709,636 , GRCh37.p13 chr2: 153,566,115-153,566,150 PRPF40A
    nsv7038090inversion1nstd229human GRCh38 chr2: 152,079,952-160,943,714 , GRCh37.p13 chr2: 152,936,466-161,800,225 , ITGB6, 105 more genes
    nsv6693519copy number variation1nstd229human GRCh38 chr2: 152,696,635-152,697,161 , GRCh37.p13 chr2: 153,553,149-153,553,675 PRPF40A
    nsv6693155copy number variation1nstd229human GRCh38 chr2: 152,619,201-152,682,300 , GRCh37.p13 chr2: 153,475,715-153,538,814 PRPF40A, FMNL2
    nsv6693038copy number variation1nstd229human GRCh38 chr2: 152,655,382-152,656,794 , GRCh37.p13 chr2: 153,511,896-153,513,308 PRPF40A
    nsv6692524copy number variation1nstd229human GRCh38 chr2: 150,229,231-153,083,013 , GRCh37.p13 chr2: 151,085,745-153,939,527 RPL30P2, NEB, 30 more genes
    nsv6692508copy number variation1nstd229human GRCh38 chr2: 152,666,609-152,666,685 , GRCh37.p13 chr2: 153,523,123-153,523,199 PRPF40A
    nsv6689583copy number variation1nstd229human GRCh38 chr2: 152,717,805-152,717,851 , GRCh37.p13 chr2: 153,574,319-153,574,365 PRPF40A, ARL6IP6
    nsv6686862copy number variation1nstd229human GRCh38 chr2: 152,669,278-152,670,233 , GRCh37.p13 chr2: 153,525,792-153,526,747 PRPF40A
    nsv6686531copy number variation1nstd229human GRCh38 chr2: 152,694,841-152,695,135 , GRCh37.p13 chr2: 153,551,355-153,551,649 PRPF40A
    nsv6684872copy number variation1nstd229human GRCh38 chr2: 152,384,879-152,700,468 , GRCh37.p13 chr2: 153,241,393-153,556,982 PRPF40A, FMNL2, 1 more genes
    nsv6682811copy number variation1nstd229human GRCh38 chr2: 152,636,491-152,703,996 , GRCh37.p13 chr2: 153,493,005-153,560,510 PRPF40A, FMNL2
    nsv6682465copy number variation1nstd229human GRCh38 chr2: 152,586,555-152,710,537 , GRCh37.p13 chr2: 153,443,069-153,567,051 FMNL2, PRPF40A
    nsv6680684copy number variation1nstd229human GRCh38 chr2: 152,661,838-152,741,818 , GRCh37.p13 chr2: 153,518,352-153,598,332 PRPF40A, ARL6IP6
    nsv6635131copy number variation1nstd227human GRCh38.p12 chr2: 152,666,597-152,801,476 , GRCh37 chr2: 153,523,111-153,657,990 PRPF40A, ARL6IP6
    nsv6553705inversion1nstd223human GRCh38 chr2: 152,709,986-152,710,535 , GRCh37.p13 chr2: 153,566,500-153,567,049 PRPF40A
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