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Items: 1 to 20 of 231

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099196copy number variation1nstd231human GRCh38.p12 chr1: 42,172,633-43,430,191 , GRCh37 chr1: 42,638,304-43,895,862 CDC20, MPL, 43 more genes
    nsv7049101inversion1nstd229human GRCh38 chr1: 42,259,139-42,451,496 , GRCh37.p13 chr1: 42,724,810-42,917,167 RPS15AP8, RIMKLA, 2 more genes
    nsv7043374inversion1nstd229human GRCh38 chr1: 42,216,144-42,439,560 , GRCh37.p13 chr1: 42,681,815-42,905,231 FOXJ3, RIMKLA, 2 more genes
    nsv7038879inversion1nstd229human GRCh38 chr1: 40,401,036-42,810,368 , GRCh37.p13 chr1: 40,866,708-43,276,039 CITED4, ZNF684, 53 more genes
    nsv6650152copy number variation1nstd229human GRCh38 chr1: 42,064,199-42,539,757 , GRCh37.p13 chr1: 42,529,870-43,005,428 RIMKLA, RPS3AP11, 8 more genes
    nsv6650103copy number variation1nstd229human GRCh38 chr1: 42,406,701-42,409,800 , GRCh37.p13 chr1: 42,872,372-42,875,471 RIMKLA
    nsv6650102copy number variation1nstd229human GRCh38 chr1: 42,394,802-42,397,306 , GRCh37.p13 chr1: 42,860,473-42,862,977 RIMKLA
    nsv6649960copy number variation1nstd229human GRCh38 chr1: 42,423,484-42,423,800 , GRCh37.p13 chr1: 42,889,155-42,889,471 RIMKLA
    nsv6649445copy number variation1nstd229human GRCh38 chr1: 42,246,181-42,402,334 , GRCh37.p13 chr1: 42,711,852-42,868,005 FOXJ3, RIMKLA
    nsv6554184inversion1nstd223human GRCh38 chr1: 42,408,422-42,408,930 , GRCh37.p13 chr1: 42,874,093-42,874,601 RIMKLA
    nsv6545858inversion1nstd223human GRCh38 chr1: 42,389,521-42,390,046 , GRCh37.p13 chr1: 42,855,192-42,855,717 RIMKLA
    nsv6316630copy number variation1nstd223human GRCh38 chr1: 42,425,644-42,426,447 , GRCh37.p13 chr1: 42,891,315-42,892,118 RIMKLA
    nsv6313688copy number variation1nstd102humanPathogenic GRCh37 chr1: 33,285,582-47,891,811 , GRCh38.p12 chr1: 32,819,981-47,426,139 LOC107984940, PPIAP36, 407 more genes
    nsv6154382copy number variation1nstd214human GRCh38 chr1: 42,396,197-42,396,270 , GRCh37.p13 chr1: 42,861,868-42,861,941 RIMKLA
    nsv6133994copy number variation1nstd213human GRCh37 chr1: 37,480,000-43,930,001 , GRCh38.p12 chr1: 37,014,399-43,464,330 BMP8B, CDC20, 183 more genes
    nsv5414164copy number variation1nstd206human GRCh38 chr1: 42,396,191-42,396,271 , GRCh37.p13 chr1: 42,861,862-42,861,942 RIMKLA
    nsv5329344translocation1nstd204human GRCh38.p13 chr1: 42,384,950-42,384,950 , GRCh38.p13 chr1: 42,389,786-42,389,786 , GRCh37.p13 chr1: 42,855,457-42,855,457 , GRCh37.p13 chr1: 42,850,621-42,850,621 RIMKLA
    nsv5207746copy number variation1nstd204human GRCh38.p13 chr1: 42,384,992-42,390,396 , GRCh37.p13 chr1: 42,850,663-42,856,067 RIMKLA
    nsv4906157copy number variation1nstd200human GRCh38 chr1: 42,406,752-42,409,819 , GRCh37.p13 chr1: 42,872,423-42,875,490 RIMKLA
    nsv4903406copy number variation1nstd200human GRCh38 chr1: 42,064,199-42,539,759 , GRCh37.p13 chr1: 42,529,870-43,005,430 GUCA2B, RIMKLA, 8 more genes
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