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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5960136insertion1nstd209human GRCh38 chr1: 56,655,280-56,655,280 , GRCh37.p13 chr1: 57,120,953-57,120,953 PRKAA2
    nsv5685349mobile element insertion2nstd211human GRCh38 chr1: 56,671,600-56,671,600 , GRCh37.p13 chr1: 57,137,273-57,137,273 PRKAA2
    nsv5676401mobile element insertion1nstd211human GRCh38 chr1: 56,715,486-56,715,486 , GRCh37.p13 chr1: 57,181,159-57,181,159 PRKAA2
    nsv5424190copy number variation1nstd206human GRCh38 chr1: 56,712,640-56,712,835 , GRCh37.p13 chr1: 57,178,313-57,178,508 PRKAA2
    nsv5414350copy number variation1nstd206human GRCh38 chr1: 56,693,156-56,693,270 , GRCh37.p13 chr1: 57,158,829-57,158,943 PRKAA2
    nsv5401633mobile element insertion1nstd206human GRCh38 chr1: 56,671,600-56,671,651 , GRCh37.p13 chr1: 57,137,273-57,137,324 PRKAA2
    nsv5395253mobile element insertion1nstd206human GRCh38 chr1: 56,715,486-56,715,537 , GRCh37.p13 chr1: 57,181,159-57,181,210 PRKAA2
    nsv5078944mobile element insertion1nstd203human GRCh38 chr1: 56,671,586-56,671,600 , GRCh37.p13 chr1: 57,137,259-57,137,273 PRKAA2
    nsv5069447mobile element insertion1nstd203human GRCh38 chr1: 56,659,148-56,659,162 , GRCh37.p13 chr1: 57,124,821-57,124,835 PRKAA2
    nsv4890331copy number variation1nstd200human GRCh38 chr1: 56,711,870-56,712,627 , GRCh37.p13 chr1: 57,177,543-57,178,300 PRKAA2
    nsv4890330copy number variation1nstd200human GRCh38 chr1: 56,693,156-56,693,270 , GRCh37.p13 chr1: 57,158,829-57,158,943 PRKAA2
    nsv4890329copy number variation1nstd200human GRCh38 chr1: 56,689,889-56,690,018 , GRCh37.p13 chr1: 57,155,562-57,155,691 PRKAA2
    nsv4890328copy number variation1nstd200human GRCh38 chr1: 56,684,630-56,684,686 , GRCh37.p13 chr1: 57,150,303-57,150,359 PRKAA2
    nsv4888344inversion1nstd200human GRCh37 chr1: 51,769,169-94,478,994 , GRCh38.p12 chr1: 51,303,497-94,013,438 , ST13P20, 664 more genes
    nsv4783348copy number variation1nstd200human GRCh37 chr1: 57,177,543-57,178,300 , GRCh38.p12 chr1: 56,711,870-56,712,627 PRKAA2
    nsv4783347copy number variation1nstd200human GRCh37 chr1: 57,155,562-57,155,691 , GRCh38.p12 chr1: 56,689,889-56,690,018 PRKAA2
    nsv4768338copy number variation1nstd102humanPathogenic GRCh37 chr1: 53,675,707-66,644,963 , GRCh38.p12 chr1: 53,210,035-66,179,280 TALDO1P1, LAMTOR5P1, 201 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
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