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Items: 1 to 20 of 293

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5886482copy number variation1nstd209human GRCh38 chr1: 226,646,558-226,647,045 , GRCh37.p13 chr1: 226,834,259-226,834,746 ITPKB
    nsv5884342copy number variation1nstd209human GRCh38 chr1: 221,964,560-227,275,238 , GRCh37.p13 chr1: 222,137,902-227,462,939 , YBX1P9, 111 more genes
    nsv5675975mobile element insertion1nstd211human GRCh38 chr1: 226,668,494-226,668,494 , GRCh37.p13 chr1: 226,856,195-226,856,195 ITPKB, ITPKB-IT1
    nsv5620047insertion1nstd207human GRCh38 chr1: 226,668,476-226,668,476 , GRCh37.p13 chr1: 226,856,177-226,856,177 ITPKB, ITPKB-IT1
    nsv5441119copy number variation1nstd206human GRCh38 chr1: 226,715,940-226,754,502 , GRCh37.p13 chr1: 226,903,641-226,942,203 ITPKB
    nsv5438375copy number variation1nstd206human GRCh38 chr1: 226,723,558-226,723,860 , GRCh37.p13 chr1: 226,911,259-226,911,561 ITPKB
    nsv5397571mobile element insertion1nstd206human GRCh38 chr1: 226,668,494-226,668,545 , GRCh37.p13 chr1: 226,856,195-226,856,246 ITPKB, ITPKB-IT1
    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
    nsv5355627translocation1nstd200human GRCh38 chr1: 226,629,641-226,629,641 , GRCh38 chr1: 226,629,698-226,629,698 , GRCh37.p13 chr1: 226,817,342-226,817,342 , GRCh37.p13 chr1: 226,817,399-226,817,399 ITPKB
    nsv5281863copy number variation1nstd204human GRCh38.p13 chr1: 226,624,759-226,638,609 , GRCh37.p13 chr1: 226,812,460-226,826,310 ITPKB
    nsv5216028copy number variation1nstd204human GRCh38.p13 chr1: 226,623,272-226,638,281 , GRCh37.p13 chr1: 226,810,973-226,825,982 ITPKB
    nsv5073246mobile element insertion1nstd203human GRCh38 chr1: 226,729,252-226,729,271 , GRCh37.p13 chr1: 226,916,953-226,916,972 ITPKB
    nsv4899074copy number variation1nstd200human GRCh38 chr1: 226,723,551-226,723,778 , GRCh37.p13 chr1: 226,911,252-226,911,479 ITPKB
    nsv4899073copy number variation1nstd200human GRCh38 chr1: 226,721,482-226,722,159 , GRCh37.p13 chr1: 226,909,183-226,909,860 ITPKB
    nsv4899072copy number variation1nstd200human GRCh38 chr1: 226,707,847-226,711,900 , GRCh37.p13 chr1: 226,895,548-226,899,601 ITPKB
    nsv4899071copy number variation1nstd200human GRCh38 chr1: 226,702,234-226,702,487 , GRCh37.p13 chr1: 226,889,935-226,890,188 ITPKB
    nsv4781481copy number variation1nstd200human GRCh37 chr1: 226,812,468-226,826,311 , GRCh38.p12 chr1: 226,624,767-226,638,610 ITPKB
    nsv4774649mobile element deletion1nstd200human GRCh37 chr1: 226,905,733-226,906,040 , GRCh38.p12 chr1: 226,718,032-226,718,339 ITPKB
    nsv4774648copy number variation1nstd200human GRCh37 chr1: 226,834,263-226,834,747 , GRCh38.p12 chr1: 226,646,562-226,647,046 ITPKB
    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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