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Items: 1 to 20 of 168

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5906174copy number variation1nstd209human GRCh38 chr2: 169,810,574-169,810,650 , GRCh37.p13 chr2: 170,667,084-170,667,160 SSB, METTL5
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 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
    nsv5443681copy number variation1nstd206human GRCh38 chr2: 169,813,417-169,814,822 , GRCh37.p13 chr2: 170,669,927-170,671,332 SNORD3K, METTL5
    nsv5284830copy number variation1nstd204human GRCh37.p13 chr2: 170,658,321-170,683,509 , GRCh38.p13 chr2: 169,801,811-169,826,999 SSB, METTL5, 2 more genes
    nsv5216785copy number variation1nstd204human GRCh38.p13 chr2: 169,809,772-169,810,949 , GRCh37.p13 chr2: 170,666,282-170,667,459 SSB, METTL5
    nsv5214001copy number variation1nstd204human GRCh38.p13 chr2: 169,801,501-169,827,100 , GRCh37.p13 chr2: 170,658,011-170,683,610 METTL5, UBR3, 2 more genes
    nsv5208638copy number variation1nstd204human GRCh38.p13 chr2: 169,812,348-169,814,843 , GRCh37.p13 chr2: 170,668,858-170,671,353 SNORD3K, SSB, 1 more genes
    nsv5205128copy number variation1nstd204human GRCh38.p13 chr2: 169,801,299-169,827,078 , GRCh37.p13 chr2: 170,657,809-170,683,588 METTL5, SSB, 2 more genes
    nsv5202015copy number variation1nstd204human GRCh38.p13 chr2: 169,812,969-169,814,618 , GRCh37.p13 chr2: 170,669,479-170,671,128 METTL5, SNORD3K
    nsv5070280mobile element insertion1nstd203human GRCh38 chr2: 169,819,624-169,819,640 , GRCh37.p13 chr2: 170,676,134-170,676,150 METTL5
    nsv5035923inversion1nstd200human GRCh38 chr2: 83,726,586-172,391,178 , GRCh37.p13 chr2: 83,953,710-173,255,906 , MTND2P21, 1427 more genes
    nsv5033955inversion1nstd200human GRCh38 chr2: 103,800,446-187,202,765 , GRCh37.p13 chr2: 104,416,904-188,067,492 , EDDM3CP, 1184 more genes
    nsv4926444copy number variation1nstd200human GRCh38 chr2: 169,821,679-169,822,688 , GRCh37.p13 chr2: 170,678,189-170,679,198 METTL5
    nsv4926443copy number variation1nstd200human GRCh38 chr2: 169,813,257-169,814,674 , GRCh37.p13 chr2: 170,669,767-170,671,184 METTL5, SNORD3K
    nsv4879764inversion1nstd200human GRCh37 chr2: 104,416,904-188,067,492 , GRCh38.p12 chr2: 103,800,446-187,202,765 , ACMSD, 1184 more genes
    nsv4768307copy number variation1nstd102humanPathogenic GRCh37 chr2: 163,078,055-182,119,617 , GRCh38.p12 chr2: 162,221,545-181,254,890 RBM45, LOC102724194, 258 more genes
    nsv4680847copy number variation1nstd189human GRCh37.p13 chr2: 170,339,628-170,858,121 , GRCh38.p12 chr2: 169,483,118-170,001,611 SSB, PPIG, 14 more genes
    nsv4674383copy number variation1nstd102humanPathogenic GRCh37 chr2: 163,233,162-211,927,188 , GRCh38.p12 chr2: 162,376,652-211,062,464 SNORA41, LOC101929633, 663 more genes
    nsv4451512copy number variation1nstd102humanPathogenic GRCh37 chr2: 167,329,586-192,756,373 , GRCh38.p12 chr2: 166,473,076-191,891,647 LINC01117, LOC107985958, 339 more genes
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