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Items: 1 to 20 of 592

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6130884insertion1nstd186human GRCh37 chr21: 10,697,897-44,966,043 , GRCh38.p12 chr21: 12,965,809-43,546,162 , APP, 533 more genes
    nsv6112804copy number variation1nstd102humanUncertain significance GRCh37 chr21: 38,789,355-38,812,821 , GRCh38.p12 chr21: 37,417,053-37,440,519 DYRK1A
    nsv5968792insertion1nstd209human GRCh38 chr21: 37,389,679-37,389,679 , GRCh37.p13 chr21: 38,761,981-38,761,981 DYRK1A
    nsv5957125copy number variation1nstd209human GRCh38 chr21: 37,435,943-37,435,994 , GRCh37.p13 chr21: 38,808,245-38,808,296 DYRK1A
    nsv5949759copy number variation1nstd209human GRCh38 chr21: 37,453,502-37,453,597 , GRCh37.p13 chr21: 38,825,804-38,825,899 DYRK1A
    nsv5885259copy number variation1nstd209human GRCh38 chr21: 37,503,675-37,504,974 , GRCh37.p13 chr21: 38,875,978-38,877,277 DYRK1A
    nsv5711528mobile element insertion1nstd211human GRCh38 chr21: 37,447,872-37,447,872 , GRCh37.p13 chr21: 38,820,174-38,820,174 DYRK1A
    nsv5711070mobile element insertion2nstd211human GRCh38 chr21: 37,506,891-37,506,891 , GRCh37.p13 chr21: 38,879,194-38,879,194 DYRK1A
    nsv5710110mobile element insertion2nstd211human GRCh38 chr21: 37,389,695-37,389,695 , GRCh37.p13 chr21: 38,761,997-38,761,997 DYRK1A
    nsv5703295mobile element insertion1nstd211human GRCh38 chr21: 37,365,439-37,365,439 , GRCh37.p13 chr21: 38,737,741-38,737,741 DYRK1A
    nsv5673338copy number variation1nstd102humanPathogenic GRCh37 chr21: 38,844,966-38,884,854 , GRCh38.p12 chr21: 37,472,664-37,512,551 LOC105372797, DYRK1A
    nsv5673268copy number variation1nstd102humanPathogenic GRCh37 chr21: 38,844,966-38,845,202 , GRCh38.p12 chr21: 37,472,664-37,472,900 DYRK1A
    nsv5664903insertion1nstd207human GRCh38 chr21: 37,451,562-37,451,562 , GRCh37.p13 chr21: 38,823,864-38,823,864 DYRK1A
    nsv5564408copy number variation1nstd102humanUncertain significance GRCh37 chr21: 37,833,274-39,212,984 , GRCh38.p12 chr21: 36,460,976-37,840,682 TTC3-AS1, LOC105372798, 23 more genes
    nsv5555202sequence alteration1nstd206human GRCh38 chr21: 37,477,603-37,479,974 , GRCh37.p13 chr21: 38,849,905-38,852,276 DYRK1A, LOC105372797
    nsv5553628copy number variation1nstd206human GRCh38 chr21: 37,521,686-37,523,919 , GRCh37.p13 chr21: 38,893,989-38,896,222 DYRK1A
    nsv5552812copy number variation1nstd206human GRCh38 chr21: 37,458,581-37,458,636 , GRCh37.p13 chr21: 38,830,883-38,830,938 DYRK1A
    nsv5552628copy number variation1nstd206human GRCh38 chr21: 37,435,943-37,435,995 , GRCh37.p13 chr21: 38,808,245-38,808,297 DYRK1A
    nsv5552034copy number variation1nstd206human GRCh38 chr21: 37,482,270-37,483,256 , GRCh37.p13 chr21: 38,854,572-38,855,558 DYRK1A, LOC105372797
    nsv5551286copy number variation1nstd206human GRCh38 chr21: 37,479,199-37,479,390 , GRCh37.p13 chr21: 38,851,501-38,851,692 LOC105372797, DYRK1A
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