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Items: 1 to 20 of 127

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5968604inversion1nstd209human GRCh38 chr2: 49,436,021-59,087,697 , GRCh37.p13 chr2: 49,663,159-59,314,832 , ACYP2, 95 more genes
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5030738inversion1nstd200human GRCh38 chr2: 53,702,002-58,642,705 , GRCh37.p13 chr2: 53,929,139-58,869,840 , LINC01122, 71 more genes
    nsv5030307inversion1nstd200human GRCh38 chr2: 48,550,793-61,622,055 , GRCh37.p13 chr2: 48,777,932-61,849,190 , MIR217, 146 more genes
    nsv4908704copy number variation1nstd200human GRCh38 chr2: 56,157,419-56,196,580 , GRCh37.p13 chr2: 56,384,554-56,423,715 , LOC105374690, 2 more genes
    nsv4892810copy number variation1nstd200human GRCh38 chr2: 56,185,938-56,187,547 , GRCh37.p13 chr2: 56,413,073-56,414,682 LOC100129434, CCDC85A
    nsv4685623copy number variation1nstd102humannot provided GRCh37 chr2: 56,141,953-56,942,624 , GRCh38.p12 chr2: 55,914,818-56,715,489 LINC01813, MIR216B, 10 more genes
    nsv4586285copy number variation1nstd183human GRCh37 chr2: 56,394,464-56,399,611 , GRCh38.p12 chr2: 56,167,329-56,172,476 LOC100129434, LOC105374690
    nsv4451302copy number variation1nstd102humanPathogenic GRCh37 chr2: 56,175,876-60,780,215 , GRCh38.p12 chr2: 55,948,741-60,553,080 BCL11A, VRK2, 31 more genes
    nsv4071301copy number variation1nstd166human GRCh37.p13 chr2: 56,251,609-56,492,893 , GRCh38.p12 chr2: 56,024,474-56,265,758 , CCDC85A, 5 more genes
    nsv4069659copy number variation1nstd166human GRCh37.p13 chr2: 56,347,031-56,419,126 , GRCh38.p12 chr2: 56,119,896-56,191,991 , LOC105374690, 2 more genes
    nsv4065419copy number variation1nstd166human GRCh37.p13 chr2: 56,384,584-56,423,667 , GRCh38.p12 chr2: 56,157,449-56,196,532 , LOC100129434, 2 more genes
    nsv3916821copy number variation1nstd102humanPathogenic NCBI36 chr2: 47,701,031-86,783,356 , GRCh37.p13 chr2: 47,847,527-86,929,845 , GRCh38.p12 chr2: 47,620,388-86,702,722 NAGK, NRXN1-DT, 595 more genes
    nsv3910630copy number variation1nstd102humanPathogenic NCBI36 chr2: 50,739,936-242,751,149 , GRCh37.p13 chr2: 50,886,432-243,102,476 , GRCh38.p12 chr2: 50,659,294-242,160,331 DAZAP2P1, RPL36AP16, 2991 more genes
    nsv3905626copy number variation1nstd102humanPathogenic GRCh37 chr2: 40,965,422-58,090,956 , GRCh38 chr2: 40,738,282-57,863,821 , NCBI36 chr2: 40,818,926-57,944,460 RNU6-433P, RNU6-997P, 220 more genes
    nsv3904317copy number variation1nstd102humanPathogenic NCBI36 chr2: 55,651,218-60,600,483 , GRCh38 chr2: 55,570,578-60,519,844 , GRCh37 chr2: 55,797,714-60,746,979 BCL11A, VRK2, 37 more genes
    nsv3903805copy number variation1nstd102humanBenign GRCh37 chr2: 7,635,254-88,005,418 , NCBI36 chr2: 7,552,705-87,786,533 , GRCh38 chr2: 7,495,123-87,705,899 LOC101927723, SANBR, 1246 more genes
    nsv3885544copy number variation1nstd102humanPathogenic GRCh37 chr2: 14,238-243,048,760 , GRCh38.p12 chr2: 14,238-242,106,609 RNU6-674P, KANSL3, 3735 more genes
    nsv3882842copy number variation1nstd102humanPathogenic GRCh37 chr2: 34,792,916-56,676,541 , GRCh38.p12 chr2: 34,567,849-56,449,406 STON1, MSH6, 303 more genes
    nsv3882615copy number variation2nstd102humanPathogenic GRCh37 chr2: 12,771-242,783,384 , GRCh38.p12 chr2: 12,771-241,841,232 MTND2P22, LOC112268410, 3724 more genes
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