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Items: 1 to 20 of 227

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5615135insertion1nstd207human GRCh38 chr1: 168,695,010-168,695,010 , GRCh37.p13 chr1: 168,664,248-168,664,248 DPT
    nsv5610121insertion1nstd207human GRCh38 chr1: 168,725,215-168,725,215 , GRCh37.p13 chr1: 168,694,453-168,694,453 DPT
    nsv5536996insertion1nstd206human GRCh38 chr1: 168,725,268-168,725,268 , GRCh37.p13 chr1: 168,694,506-168,694,506 DPT
    nsv5432032copy number variation1nstd206human GRCh38 chr1: 168,671,300-168,697,470 , GRCh37.p13 chr1: 168,640,538-168,666,708 DPT
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv5179170mobile element insertion1nstd203human GRCh38 chr1: 168,717,218-168,717,233 , GRCh37.p13 chr1: 168,686,456-168,686,471 DPT
    nsv5066436mobile element insertion1nstd203human GRCh38 chr1: 168,717,218-168,717,233 , GRCh37.p13 chr1: 168,686,456-168,686,471 DPT
    nsv5041452inversion1nstd200human GRCh38 chr1: 163,441,139-169,028,376 , GRCh37.p13 chr1: 163,410,929-168,997,614 , RPS17P6, 97 more genes
    nsv4904009copy number variation1nstd200human GRCh38 chr1: 168,671,303-168,697,470 , GRCh37.p13 chr1: 168,640,541-168,666,708 DPT
    nsv4784609copy number variation1nstd200human GRCh37 chr1: 168,440,921-168,708,915 , GRCh38.p12 chr1: 168,471,683-168,739,677 DPT, XCL1, 5 more genes
    nsv4781261copy number variation1nstd200human GRCh37 chr1: 168,640,541-168,666,708 , GRCh38.p12 chr1: 168,671,303-168,697,470 DPT
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4728711copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 164,608,682-169,216,098 , GRCh38.p12 chr1: 164,639,445-169,246,860 ALDH9A1, ATP1B1, 95 more genes
    nsv4728484copy number variation1nstd102humanLikely benign GRCh37 chr1: 168,439,652-168,708,525 , GRCh38.p12 chr1: 168,470,414-168,739,287 DPT, XCL1, 5 more genes
    nsv4674768copy number variation1nstd102humanPathogenic GRCh37 chr1: 167,430,471-174,635,618 , GRCh38.p12 chr1: 167,461,234-174,666,480 ATP1B1, RNU6-693P, 156 more genes
    nsv4569489sequence alteration1nstd166human GRCh37.p13 chr1: 168,677,593-168,677,594 , GRCh38.p12 chr1: 168,708,355-168,708,356 DPT
    nsv4567339mobile element insertion1nstd166human GRCh37.p13 chr1: 168,678,409-168,678,409 , GRCh38.p12 chr1: 168,709,171-168,709,171 DPT
    nsv4459546mobile element insertion1nstd166human GRCh37.p13 chr1: 168,669,282-168,669,282 , GRCh38.p12 chr1: 168,700,044-168,700,044 DPT
    nsv4459078mobile element insertion1nstd166human GRCh37.p13 chr1: 168,692,093-168,692,093 , GRCh38.p12 chr1: 168,722,855-168,722,855 DPT
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