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Items: 1 to 20 of 118

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5946136copy number variation1nstd209human GRCh38 chr19: 54,101,312-54,101,411 , GRCh37.p13 chr19|NW_004166865.1: 75,679-75,778 NDUFA3, OSCAR
    nsv5934485copy number variation1nstd209human GRCh38 chr19: 54,103,782-54,103,936 , GRCh37.p13 chr19|NW_004166865.1: 78,149-78,303 NDUFA3
    nsv5602015copy number variation1nstd207human GRCh38 chr19: 54,101,312-54,101,411 , GRCh37.p13 chr19|NW_004166865.1: 75,679-75,778 NDUFA3, OSCAR
    nsv5527565copy number variation1nstd206human GRCh38 chr19: 54,079,068-54,109,847 , GRCh37.p13 chr19|NW_004166865.1: 53,435-84,214 NDUFA3, TFPT, 2 more genes
    nsv5024919copy number variation1nstd200human GRCh38 chr19: 54,085,980-54,127,982 , GRCh37.p13 chr19|NW_004166865.1: 60,347-102,349 PRPF31, NDUFA3, 2 more genes
    nsv5024916copy number variation1nstd200human GRCh38 chr19: 54,026,823-54,153,040 , GRCh37.p13 chr19|NW_004166865.1: 1,190-127,407 CNOT3, PRPF31, 6 more genes
    nsv5021319copy number variation1nstd200human GRCh38 chr19: 54,102,287-54,104,065 , GRCh37.p13 chr19|NW_004166865.1: 76,654-78,432 OSCAR, NDUFA3
    nsv4865317copy number variation1nstd200human GRCh37 chr19: 54,582,330-54,613,231 , GRCh38.p12 chr19: 54,079,065-54,109,848 , GRCh38.p12 chr19|NT_187693.1: 53,443-84,344 , GRCh38.p12 chr19|NW_003571057.2: 53,443-84,344 , GRCh38.p12 chr19|NW_003571060.1: 53,443-84,344 , GRCh38.p12 chr19|NW_003571058.2: 53,443-84,344 , GRCh38.p12 chr19|NW_003571056.2: 53,443-84,344 , GRCh38.p12 chr19|NW_003571055.2: 53,443-84,344 , GRCh38.p12 chr19|NW_003571054.1: 53,443-84,344 , GRCh38.p12 chr19|NW_003571061.2: 53,443-84,344 , GRCh38.p12 chr19|NW_003571059.2: 53,443-84,344 TFPT, OSCAR, 2 more genes
    nsv4745059copy number variation1nstd199human GRCh37 chr19: 54,605,049-54,605,127 , GRCh38.p12 chr19: 54,101,742-54,101,820 , GRCh38.p12 chr19|NT_187693.1: 76,162-76,240 , GRCh38.p12 chr19|NW_003571061.2: 76,162-76,240 , GRCh38.p12 chr19|NW_003571057.2: 76,162-76,240 , GRCh38.p12 chr19|NW_003571058.2: 76,162-76,240 , GRCh38.p12 chr19|NW_003571059.2: 76,162-76,240 , GRCh38.p12 chr19|NW_003571060.1: 76,162-76,240 , GRCh38.p12 chr19|NW_003571056.2: 76,162-76,240 , GRCh38.p12 chr19|NW_003571055.2: 76,162-76,240 , GRCh38.p12 chr19|NW_003571054.1: 76,162-76,240 OSCAR, NDUFA3
    nsv4730034copy number variation1nstd102humanUncertain significance GRCh37 chr19: 54,334,195-56,434,037 , GRCh38.p12 chr19: 53,830,941-55,922,671 , GRCh38.p12 chr19|NT_187693.1: 1-1,066,800 , GRCh38.p12 chr19|NW_003571057.2: 1-1,091,841 , GRCh38.p12 chr19|NW_003571058.2: 1-1,066,390 , GRCh38.p12 chr19|NW_003571056.2: 1-1,064,304 KIR3DP1, NLRP9, 133 more genes
    nsv4729755copy number variation1nstd102humanPathogenic GRCh37 chr19: 48,463,931-57,095,254 , GRCh38.p12 chr19: 47,960,674-56,583,886 SIGLEC5, MED25, 574 more genes
    nsv4676386copy number variation1nstd102humanUncertain significance GRCh37 chr19: 54,474,844-55,181,741 , GRCh38.p12 chr19|NT_187693.1: 134,805-652,855 , GRCh38.p12 chr19: 54,071,461-54,670,290 , GRCh38.p12 chr19|NW_003571060.1: 1-575,172 , GRCh38.p12 chr19|NW_003571061.2: 1-396,794 , GRCh38.p12 chr19|NW_003571055.2: 1-394,095 , GRCh38.p12 chr19|NW_003571054.1: 1-576,693 OSCAR, CNOT3, 48 more genes
    nsv4440123copy number variation1nstd175human GRCh37 chr19: 54,604,599-54,604,695 , GRCh38.p12 chr19: 54,101,312-54,101,412 , GRCh38.p12 chr19|NT_187693.1: 75,712-75,808 , GRCh38.p12 chr19|NW_003571061.2: 75,712-75,808 , GRCh38.p12 chr19|NW_003571057.2: 75,712-75,808 , GRCh38.p12 chr19|NW_003571058.2: 75,712-75,808 , GRCh38.p12 chr19|NW_003571059.2: 75,712-75,808 , GRCh38.p12 chr19|NW_003571060.1: 75,712-75,808 , GRCh38.p12 chr19|NW_003571056.2: 75,712-75,808 , GRCh38.p12 chr19|NW_003571055.2: 75,712-75,808 , GRCh38.p12 chr19|NW_003571054.1: 75,712-75,808 NDUFA3, OSCAR
    nsv4267276copy number variation1nstd166human GRCh37.p13 chr19: 54,606,583-54,606,656 , GRCh38.p12 chr19: 54,103,275-54,103,348 , GRCh38.p12 chr19|NW_003571058.2: 77,696-77,769 , GRCh38.p12 chr19|NW_003571056.2: 77,696-77,769 , GRCh38.p12 chr19|NW_003571055.2: 77,696-77,769 , GRCh38.p12 chr19|NW_003571054.1: 77,696-77,769 , GRCh38.p12 chr19|NW_003571057.2: 77,696-77,769 , GRCh38.p12 chr19|NW_003571060.1: 77,696-77,769 , GRCh38.p12 chr19|NT_187693.1: 77,696-77,769 , GRCh38.p12 chr19|NW_003571061.2: 77,696-77,769 , GRCh38.p12 chr19|NW_003571059.2: 77,696-77,769 NDUFA3
    nsv4260570copy number variation1nstd166human GRCh37.p13 chr19: 54,609,790-54,609,963 , GRCh38.p12 chr19|NT_187693.1: 80,903-81,076 , GRCh38.p12 chr19: 54,106,483-54,106,656 , GRCh38.p12 chr19|NW_003571057.2: 80,903-81,076 , GRCh38.p12 chr19|NW_003571060.1: 80,903-81,076 , GRCh38.p12 chr19|NW_003571061.2: 80,903-81,076 , GRCh38.p12 chr19|NW_003571059.2: 80,903-81,076 , GRCh38.p12 chr19|NW_003571058.2: 80,903-81,076 , GRCh38.p12 chr19|NW_003571056.2: 80,903-81,076 , GRCh38.p12 chr19|NW_003571055.2: 80,903-81,076 , GRCh38.p12 chr19|NW_003571054.1: 80,903-81,076 NDUFA3, TFPT
    nsv4256745copy number variation1nstd166human GRCh37.p13 chr19: 54,608,288-54,608,769 , GRCh38.p12 chr19|NT_187693.1: 79,401-79,882 , GRCh38.p12 chr19|NW_003571058.2: 79,401-79,882 , GRCh38.p12 chr19: 54,104,980-54,105,462 , GRCh38.p12 chr19|NW_003571057.2: 79,401-79,882 , GRCh38.p12 chr19|NW_003571060.1: 79,401-79,882 , GRCh38.p12 chr19|NW_003571056.2: 79,401-79,882 , GRCh38.p12 chr19|NW_003571055.2: 79,401-79,882 , GRCh38.p12 chr19|NW_003571054.1: 79,401-79,882 , GRCh38.p12 chr19|NW_003571061.2: 79,401-79,882 , GRCh38.p12 chr19|NW_003571059.2: 79,401-79,882 NDUFA3, TFPT
    nsv3970178copy number variation1nstd168human GRCh38 chr19: 53,985,000-54,140,178 , GRCh37.p13 chr19|NW_004166865.1: 1-114,545 NDUFA3, CNOT3, 7 more genes
    nsv3969273insertion1nstd168human GRCh38 chr19: 54,040,866-54,160,581 , GRCh37.p13 chr19|NW_004166865.1: 15,233-134,948 CNOT3, PRPF31, 8 more genes
    nsv3940300copy number variation1nstd167human GRCh37 chr19: 54,604,599-54,604,695 , GRCh38.p12 chr19: 54,101,312-54,101,412 , GRCh38.p12 chr19|NT_187693.1: 75,712-75,808 , GRCh38.p12 chr19|NW_003571061.2: 75,712-75,808 , GRCh38.p12 chr19|NW_003571057.2: 75,712-75,808 , GRCh38.p12 chr19|NW_003571058.2: 75,712-75,808 , GRCh38.p12 chr19|NW_003571059.2: 75,712-75,808 , GRCh38.p12 chr19|NW_003571060.1: 75,712-75,808 , GRCh38.p12 chr19|NW_003571056.2: 75,712-75,808 , GRCh38.p12 chr19|NW_003571055.2: 75,712-75,808 , GRCh38.p12 chr19|NW_003571054.1: 75,712-75,808 NDUFA3, OSCAR
    nsv3924732copy number variation1nstd102humanPathogenic GRCh38 chr19: 49,907,832-58,557,889 , GRCh37 chr19: 50,411,089-59,069,256 , NCBI36 chr19: 55,102,901-63,761,068 RPL39P37, CCDC106, 556 more genes
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