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Items: 1 to 20 of 179

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137724copy number variation1nstd102humanPathogenic GRCh37 chr1: 16,785,250-23,491,592 , GRCh38.p12 chr1: 16,458,755-23,165,099 PADI1, RPS15AP6, 176 more genes
    nsv5879443copy number variation1nstd209human GRCh38 chr1: 19,628,383-19,628,448 , GRCh37.p13 chr1: 19,954,877-19,954,942 MICOS10, MICOS10-NBL1
    nsv5874151copy number variation1nstd209human GRCh38 chr1: 13,714,112-20,623,728 , GRCh37.p13 chr1: 14,040,607-20,950,221 , TRV-CAC11-1, 171 more genes
    nsv5575678copy number variation1nstd207human GRCh38 chr1: 19,628,383-19,628,448 , GRCh37.p13 chr1: 19,954,877-19,954,942 MICOS10, MICOS10-NBL1
    nsv5563112sequence alteration1nstd206human GRCh38 chr1: 19,578,366-19,611,983 , GRCh37.p13 chr1: 19,904,860-19,938,477 MICOS10, RPS14P3, 2 more genes
    nsv5557255inversion1nstd206human GRCh38 chr1: 19,577,694-19,612,010 , GRCh37.p13 chr1: 19,904,188-19,938,504 MICOS10, RPS14P3, 2 more genes
    nsv5431026copy number variation1nstd206human GRCh38 chr1: 19,628,383-19,628,449 , GRCh37.p13 chr1: 19,954,877-19,954,943 MICOS10, MICOS10-NBL1
    nsv5356787translocation1nstd200human GRCh38 chr1: 19,628,383-19,628,383 , GRCh38 chr1: 19,628,449-19,628,449 , GRCh37.p13 chr1: 19,954,877-19,954,877 , GRCh37.p13 chr1: 19,954,943-19,954,943 MICOS10-NBL1, MICOS10
    nsv5339286translocation1nstd200human GRCh37 chr1: 19,954,943-19,954,943 , GRCh37 chr1: 19,954,877-19,954,877 , GRCh38.p12 chr1: 19,628,383-19,628,383 , GRCh38.p12 chr1: 19,628,449-19,628,449 MICOS10, MICOS10-NBL1
    nsv5285145copy number variation1nstd204human GRCh38.p13 chr1: 19,608,167-20,538,182 , GRCh37.p13 chr1: 19,934,661-20,864,675 PLA2G2C, LOC105376826, 25 more genes
    nsv5217917copy number variation1nstd204human GRCh38.p13 chr1: 19,628,245-19,638,087 , GRCh37.p13 chr1: 19,954,739-19,964,581 MICOS10, MICOS10-NBL1
    nsv5215152copy number variation1nstd204human GRCh38.p13 chr1: 19,608,201-20,098,100 , GRCh37.p13 chr1: 19,934,695-20,424,593 LOC100419911, NBL1, 12 more genes
    nsv5203419copy number variation1nstd204human GRCh38.p13 chr1: 19,612,317-19,639,712 , GRCh37.p13 chr1: 19,938,811-19,966,206 MICOS10, MICOS10-NBL1
    nsv4903150copy number variation1nstd200human GRCh38 chr1: 19,574,207-19,655,449 , GRCh37.p13 chr1: 19,900,701-19,981,942 RPS14P3, MICOS10-NBL1, 3 more genes
    nsv4903147copy number variation1nstd200human GRCh38 chr1: 19,486,193-19,634,191 , GRCh37.p13 chr1: 19,812,687-19,960,685 MICOS10, LOC105376819, 6 more genes
    nsv4895170copy number variation1nstd200human GRCh38 chr1: 19,615,649-19,618,699 , GRCh37.p13 chr1: 19,942,143-19,945,193 MICOS10, MICOS10-NBL1
    nsv4772221copy number variation1nstd200human GRCh37 chr1: 19,934,671-20,864,669 , GRCh38.p12 chr1: 19,608,177-20,538,176 PLA2G5, NBL1, 25 more genes
    nsv4772220copy number variation1nstd200human GRCh37 chr1: 19,900,701-19,981,942 , GRCh38.p12 chr1: 19,574,207-19,655,449 RPS14P3, MICOS10, 3 more genes
    nsv4772218copy number variation1nstd200human GRCh37 chr1: 19,812,687-19,960,685 , GRCh38.p12 chr1: 19,486,193-19,634,191 MICOS10-NBL1, LOC105376818, 6 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
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