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Items: 1 to 20 of 226

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5884828copy number variation1nstd209human GRCh38 chr1: 182,807,870-182,813,131 , GRCh37.p13 chr1: 182,777,005-182,782,266 NPL
    nsv5828768copy number variation1nstd209human GRCh38 chr1: 182,807,926-182,813,125 , GRCh37.p13 chr1: 182,777,061-182,782,260 NPL
    nsv5718075mobile element insertion1nstd211human GRCh38 chr1: 182,797,168-182,797,168 , GRCh37.p13 chr1: 182,766,303-182,766,303 NPL
    nsv5560795mobile element insertion1nstd206human GRCh38 chr1: 182,797,179-182,797,219 , GRCh37.p13 chr1: 182,766,314-182,766,354 NPL
    nsv5451572copy number variation1nstd206human GRCh38 chr1: 182,805,561-182,805,762 , GRCh37.p13 chr1: 182,774,696-182,774,897 NPL
    nsv5436654copy number variation1nstd206human GRCh38 chr1: 182,807,888-182,813,128 , GRCh37.p13 chr1: 182,777,023-182,782,263 NPL
    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
    nsv5282673copy number variation1nstd204human GRCh38.p13 chr1: 182,807,862-182,813,181 , GRCh37.p13 chr1: 182,776,997-182,782,316 NPL
    nsv5216724copy number variation1nstd204human GRCh38.p13 chr1: 182,807,826-182,813,175 , GRCh37.p13 chr1: 182,776,961-182,782,310 NPL
    nsv5203163copy number variation1nstd204human GRCh38.p13 chr1: 182,807,901-182,813,200 , GRCh37.p13 chr1: 182,777,036-182,782,335 NPL
    nsv5193538mobile element insertion1nstd203human GRCh38 chr1: 182,801,264-182,801,264 , GRCh37.p13 chr1: 182,770,399-182,770,399 NPL
    nsv4906630copy number variation1nstd200human GRCh38 chr1: 182,807,859-182,813,201 , GRCh37.p13 chr1: 182,776,994-182,782,336 NPL
    nsv4906629copy number variation1nstd200human GRCh38 chr1: 182,806,076-182,807,315 , GRCh37.p13 chr1: 182,775,211-182,776,450 NPL
    nsv4898336copy number variation1nstd200human GRCh38 chr1: 182,803,366-182,803,574 , GRCh37.p13 chr1: 182,772,501-182,772,709 NPL
    nsv4784900copy number variation1nstd200human GRCh37 chr1: 182,777,040-182,782,261 , GRCh38.p12 chr1: 182,807,905-182,813,126 NPL
    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
    nsv4674293copy number variation1nstd102humanUncertain significance GRCh37 chr1: 180,586,428-183,178,629 , GRCh38.p12 chr1: 180,617,292-183,209,494 RNU6-152P, TEDDM1, 45 more genes
    nsv4673925copy number variation1nstd102humanPathogenic GRCh37 chr1: 177,551,193-199,599,056 , GRCh38.p12 chr1: 177,582,058-199,629,928 QSOX1, PTPRC, 263 more genes
    nsv4663335copy number variation1nstd186human GRCh37 chr1: 182,776,637-182,781,883 , GRCh38.p12 chr1: 182,807,502-182,812,748 NPL
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