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Items: 1 to 20 of 363

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6126413copy number variation1nstd186human GRCh37 chr22: 45,723,830-45,724,208 , GRCh38.p12 chr22: 45,327,949-45,328,327 FAM118A
    nsv5967332copy number variation1nstd209human GRCh38 chr22: 45,327,999-45,328,326 , GRCh37.p13 chr22: 45,723,880-45,724,207 FAM118A
    nsv5666925insertion1nstd207human GRCh38 chr22: 45,328,066-45,328,066 , GRCh37.p13 chr22: 45,723,947-45,723,947 FAM118A
    nsv5666915insertion3nstd207human GRCh38 chr22: 45,328,345-45,328,345 , GRCh37.p13 chr22: 45,724,226-45,724,226 FAM118A
    nsv5604450copy number variation1nstd207human GRCh38 chr22: 45,327,999-45,328,326 , GRCh37.p13 chr22: 45,723,880-45,724,207 FAM118A
    nsv5601828copy number variation1nstd207human GRCh38 chr22: 45,328,087-45,328,168 , GRCh37.p13 chr22: 45,723,968-45,724,049 FAM118A
    nsv5540341copy number variation1nstd206human GRCh38 chr22: 45,247,581-45,517,164 , GRCh37.p13 chr22: 45,643,462-45,913,044 FBLN1, UPK3A, 6 more genes
    nsv5538208copy number variation1nstd206human GRCh38 chr22: 45,304,128-45,330,037 , GRCh37.p13 chr22: 45,700,009-45,725,918 FAM118A
    nsv5537296copy number variation1nstd206human GRCh38 chr22: 45,327,949-45,328,327 , GRCh37.p13 chr22: 45,723,830-45,724,208 FAM118A
    nsv5392374copy number variation1nstd186human GRCh37 chr22: 45,723,924-45,724,210 , GRCh38.p12 chr22: 45,328,043-45,328,329 FAM118A
    nsv5389564copy number variation1nstd186human GRCh37 chr22: 45,723,963-45,724,204 , GRCh38.p12 chr22: 45,328,082-45,328,323 FAM118A
    nsv5381149copy number variation1nstd102humanPathogenic GRCh37 chr22: 42,333,802-51,195,728 , GRCh38.p12 chr22: 41,937,798-50,757,300 WBP2NL, RN7SKP80, 210 more genes
    nsv5323807copy number variation1nstd204human GRCh38.p13 chr22: 45,327,787-45,328,580 , GRCh37.p13 chr22: 45,723,668-45,724,461 FAM118A
    nsv5287906copy number variation1nstd204human GRCh38.p13 chr22: 45,332,882-45,342,188 , GRCh37.p13 chr22: 45,728,763-45,738,069 FAM118A, SMC1B
    nsv5286499copy number variation1nstd204human GRCh38.p13 chr22: 45,328,001-45,328,400 , GRCh37.p13 chr22: 45,723,882-45,724,281 FAM118A
    nsv5170814mobile element insertion1nstd203human GRCh38 chr22: 45,320,588-45,320,606 , GRCh37.p13 chr22: 45,716,469-45,716,487 FAM118A
    nsv5035622copy number variation1nstd200human GRCh38 chr22: 45,205,645-45,334,542 , GRCh37.p13 chr22: 45,601,526-45,730,423 UPK3A, KIAA0930, 2 more genes
    nsv5035400copy number variation1nstd200human GRCh38 chr22: 44,436,410-45,546,334 , GRCh37.p13 chr22: 44,832,290-45,942,214 , RIBC2, 29 more genes
    nsv5031891copy number variation1nstd200human GRCh38 chr22: 45,328,042-45,328,330 , GRCh37.p13 chr22: 45,723,923-45,724,211 FAM118A
    nsv5030565copy number variation1nstd200human GRCh38 chr22: 45,293,379-45,330,930 , GRCh37.p13 chr22: 45,689,260-45,726,811 UPK3A, FAM118A
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