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Items: 1 to 20 of 225

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5979018insertion1nstd209human GRCh38 chr12: 109,055,400-109,055,400 , GRCh37.p13 chr12: 109,493,205-109,493,205 USP30
    nsv5714333mobile element insertion2nstd211human GRCh38 chr12: 109,067,724-109,067,724 , GRCh37.p13 chr12: 109,505,529-109,505,529 USP30
    nsv5662684insertion2nstd207human GRCh38 chr12: 109,055,400-109,055,400 , GRCh37.p13 chr12: 109,493,205-109,493,205 USP30
    nsv5559226mobile element insertion1nstd206human GRCh38 chr12: 109,067,724-109,067,775 , GRCh37.p13 chr12: 109,505,529-109,505,580 USP30
    nsv5501080copy number variation1nstd206human GRCh38 chr12: 109,049,462-109,049,576 , GRCh37.p13 chr12: 109,487,267-109,487,381 USP30
    nsv5193758mobile element insertion1nstd203human GRCh38 chr12: 109,034,692-109,034,706 , GRCh37.p13 chr12: 109,472,497-109,472,511 USP30
    nsv5120847mobile element insertion1nstd203human GRCh38 chr12: 109,034,692-109,034,706 , GRCh37.p13 chr12: 109,472,497-109,472,511 USP30
    nsv5037136inversion1nstd200human GRCh38 chr12: 69,787,024-109,882,221 , GRCh37.p13 chr12: 70,180,804-110,320,026 , RPL23AP68, 540 more genes
    nsv4995528copy number variation1nstd200human GRCh38 chr12: 109,059,829-109,059,961 , GRCh37.p13 chr12: 109,497,634-109,497,766 USP30, RNA5SP372
    nsv4993660copy number variation1nstd200human GRCh38 chr12: 109,063,696-109,158,618 , GRCh37.p13 chr12: 109,501,501-109,596,423 ALKBH2, LOC105369974, 3 more genes
    nsv4886161inversion1nstd200human GRCh37 chr12: 70,180,810-110,320,027 , GRCh38.p12 chr12: 69,787,030-109,882,222 , LOC728739, 540 more genes
    nsv4835223copy number variation1nstd200human GRCh37 chr12: 109,501,500-109,596,424 , GRCh38.p12 chr12: 109,063,695-109,158,619 ACACB, USP30, 3 more genes
    nsv4769383copy number variation1nstd102humanUncertain significance GRCh37 chr12: 107,197,584-109,830,564 , GRCh38.p12 chr12: 106,803,806-109,392,759 TMEM263, MYO1H, 50 more genes
    nsv4756208inversion1nstd199human GRCh37 chr12: 104,359,633-125,801,147 , GRCh38.p12 chr12: 103,965,855-125,316,601 , ACACB, 453 more genes
    nsv4755205inversion1nstd199human GRCh37 chr12: 25,956,127-125,801,151 , GRCh38.p12 chr12: 25,803,193-125,316,605 , ACACB, 1787 more genes
    nsv4754840inversion1nstd199human GRCh37 chr12: 104,382,539-125,801,164 , GRCh38.p12 chr12: 103,988,761-125,316,618 , ACACB, 452 more genes
    nsv4751845insertion1nstd199human GRCh37 chr12: 109,493,153-109,493,153 , GRCh38.p12 chr12: 109,055,348-109,055,348 USP30
    nsv4736781copy number variation1nstd199human GRCh37 chr12: 25,957,322-125,801,148 , GRCh38.p12 chr12: 25,804,388-125,316,602 , RNA5SP368, 1787 more genes
    nsv4728881copy number variation1nstd102humanPathogenic GRCh37 chr12: 106,498,814-112,252,906 , GRCh38.p12 chr12: 106,105,036-111,815,102 ATP2A2, CUX2, 115 more genes
    nsv4675412copy number variation1nstd102humanUncertain significance GRCh37 chr12: 109,199,902-110,267,493 , GRCh38.p12 chr12: 108,806,126-109,829,688 FAM222A-AS1, LINC01486, 24 more genes
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