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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4355419copy number variation1nstd102humanUncertain significance NCBI36 (hg18) chr1: 44,134,315-45,105,995 , GRCh37.p13 chr1: 44,361,728-45,333,408 , GRCh38.p12 chr1: 43,896,056-44,867,736 TMEM53, DPH2, 48 more genes
    nsv4352724copy number variation1nstd102humanPathogenic NCBI36 (hg18) chr1: 38,460,996-45,874,435 , GRCh37.p13 chr1: 38,688,409-46,101,848 , GRCh38.p12 chr1: 38,222,737-45,636,176 TMEM53, ATP6V0B, 225 more genes
    nsv4351404copy number variation1nstd102humanPathogenic NCBI36 (hg18) chr1: 40,700,674-44,906,299 , GRCh37.p13 chr1: 40,928,087-45,133,712 , GRCh38.p12 chr1: 40,462,415-44,668,040 TMEM53, ATP6V0B, 118 more genes
    nsv4340661mobile element insertion1nstd166human GRCh37.p13 chr1: 14,254,126-55,027,517 , GRCh38.p12 chr1: 13,927,631-54,561,844 TMEM53, ATP6V0B, 1096 more genes
    nsv4332732mobile element insertion1nstd166human GRCh37.p13 chr1: 918,618-46,707,098 , GRCh38.p12 chr1: 983,238-46,241,426 TMEM53, C1QA, 1278 more genes
    nsv4332222mobile element insertion1nstd166human GRCh37.p13 chr1: 24,697,310-105,364,021 , GRCh38.p12 chr1: 24,370,820-104,821,399 TMEM53, AMY1B, 1515 more genes
    nsv4326932inversion1nstd166human GRCh37.p13 chr1: 35,173,490-93,458,530 , GRCh38.p12 chr1: 34,707,889-92,992,973 TMEM53, AK4, 1071 more genes
    nsv4291668insertion1nstd166human GRCh37.p13 chr1: 29,853,117-71,303,312 , GRCh38.p12 chr1: 29,526,605-70,837,629 TMEM53, PLK3, 880 more genes
    nsv4291110insertion1nstd166human GRCh37.p13 chr1: 26,228,585-51,666,384 , GRCh38.p12 chr1: 25,902,094-51,200,712 TMEM53, AK2, 675 more genes
    nsv4290870insertion1nstd166human GRCh37.p13 chr1: 14,307,592-108,917,525 , GRCh38.p12 chr1: 13,981,097-108,374,903 TMEM53, AK4, 1831 more genes
    nsv4290849insertion1nstd166human GRCh37.p13 chr1: 18,331,489-218,444,393 , GRCh38.p12 chr1: 18,004,995-218,271,051 TMEM53, ABCA4, 3888 more genes
    nsv4281469insertion1nstd166human GRCh37.p13 chr1: 8,280,271-54,596,485 , GRCh38.p12 chr1: 8,220,211-54,130,812 TMEM53, AK2, 1263 more genes
    nsv4281038insertion1nstd166human GRCh37.p13 chr1: 20,926,164-78,417,917 , GRCh38.p12 chr1: 20,599,671-77,952,232 TMEM53, ADGRB2, 1237 more genes
    nsv4279817insertion1nstd166human GRCh37.p13 chr1: 37,211,666-161,214,214 , GRCh38.p12 chr1: 36,746,065-161,244,424 TMEM53, ACADM, 2381 more genes
    nsv4278528insertion1nstd166human GRCh37.p13 chr1: 714,059-224,180,377 , GRCh38.p12 chr1: 778,679-223,992,675 TMEM53, AMPD2, 4500 more genes
    nsv4278433insertion1nstd166human GRCh37.p13 chr1: 15,490,119-210,559,675 , GRCh38.p12 chr1: 15,163,623-210,386,331 TMEM53, ABCA4, 3895 more genes
    nsv4276075insertion1nstd166human GRCh37.p13 chr1: 14,307,584-248,376,845 , GRCh38.p12 chr1: 13,981,089-248,213,543 TMEM53, ADORA1, 4637 more genes
    nsv4275623insertion1nstd166human GRCh37.p13 chr1: 27,490,875-83,042,972 , GRCh38.p12 chr1: 27,164,384-82,577,289 TMEM53, ACADM, 1076 more genes
    nsv4274822insertion1nstd166human GRCh37.p13 chr1: 21,624,331-231,303,388 , GRCh38.p12 chr1: 21,297,838-231,167,642 TMEM53, ACTA1, 4116 more genes
    nsv4273613insertion1nstd166human GRCh37.p13 chr1: 19,445,086-80,690,614 , GRCh38.p12 chr1: 19,118,592-80,224,929 TMEM53, AK4, 1307 more genes
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