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Items: 1 to 20 of 906

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148161copy number variation1nstd102humanPathogenic GRCh38 chr4: 1-49,062,177 , GRCh37.p13 chr4: 507,005-49,064,194 SLIRPP2, STIM2-AS1, 659 more genes
    nsv7148157copy number variation1nstd102humanPathogenic GRCh38 chr4: 85,624-57,073,230 , GRCh37.p13 chr4: 507,005-57,939,396 OR7E84P, FAM193A, 764 more genes
    nsv7144802insertion1nstd232human GRCh37.p13 chr4: 863,485-863,485 , GRCh38.p12 chr4: 869,697-869,697 GAK
    nsv7142442insertion1nstd232human GRCh37.p13 chr4: 862,937-862,937 , GRCh38.p12 chr4: 869,149-869,149 GAK
    nsv7137196copy number variation1nstd102humanPathogenic GRCh37 chr4: 68,345-34,512,694 , GRCh38.p12 chr4: 68,453-34,511,072 ECM1P2, LOC105378240, 482 more genes
    nsv7097251copy number variation1nstd102humanUncertain significance GRCh37 chr4: 493,125-1,843,544 , GRCh38.p12 chr4: 499,336-1,841,817 PDE6B, LOC105374339, 44 more genes
    nsv7096733copy number variation1nstd102humanPathogenic GRCh37 chr4: 520,808-1,020,391 , GRCh38.p12 chr4: 527,019-1,026,603 PDE6B-AS1, PIGG, 19 more genes
    nsv7056080inversion1nstd229human GRCh38 chr4: 802,364-1,026,131 , GRCh37.p13 chr4: 796,152-1,019,919 LOC105374341, LOC105374340, 7 more genes
    nsv7048805inversion1nstd229human GRCh38 chr4: 917,034-917,060 , GRCh37.p13 chr4: 910,822-910,848 GAK
    nsv6734599copy number variation1nstd229human GRCh38 chr4: 865,284-865,690 , GRCh37.p13 chr4: 859,072-859,478 GAK
    nsv6733714copy number variation1nstd229human GRCh38 chr4: 884,801-957,800 , GRCh37.p13 chr4: 878,589-951,588 DGKQ, GAK, 1 more genes
    nsv6731414copy number variation1nstd229human GRCh38 chr4: 865,601-915,300 , GRCh37.p13 chr4: 859,389-909,088 GAK, LOC105374341
    nsv6730620copy number variation1nstd229human GRCh38 chr4: 864,601-866,100 , GRCh37.p13 chr4: 858,389-859,888 GAK
    nsv6730128copy number variation1nstd229human GRCh38 chr4: 813,467-1,049,563 , GRCh37.p13 chr4: 807,255-1,043,351 TMEM175, LOC105374341, 8 more genes
    nsv6729886copy number variation1nstd229human GRCh38 chr4: 881,901-886,685 , GRCh37.p13 chr4: 875,689-880,473 GAK
    nsv6729814copy number variation1nstd229human GRCh38 chr4: 932,438-1,207,526 , GRCh37.p13 chr4: 926,226-1,201,314 SPON2, LOC100421802, 11 more genes
    nsv6728616copy number variation1nstd229human GRCh38 chr4: 879,191-879,601 , GRCh37.p13 chr4: 872,979-873,389 GAK
    nsv6728558copy number variation1nstd229human GRCh38 chr4: 852,148-1,011,710 , GRCh37.p13 chr4: 845,936-1,005,498 LOC105374341, IDUA, 5 more genes
    nsv6728484copy number variation1nstd229human GRCh38 chr4: 932,429-932,512 , GRCh37.p13 chr4: 926,217-926,300 GAK, TMEM175
    nsv6724298copy number variation1nstd229human GRCh38 chr4: 860,172-860,229 , GRCh37.p13 chr4: 853,960-854,017 GAK
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