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Items: 1 to 20 of 173

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137788copy number variation1nstd102humanPathogenic GRCh37 chr2: 24,601,818-43,466,284 , GRCh38.p12 chr2: 24,378,949-43,239,145 GTF3C2-AS1, MAPRE3-AS1, 316 more genes
    nsv6112680copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 24,881,528-43,460,021 , GRCh38.p12 chr2: 24,658,659-43,232,882 ADCY3, ALK, 314 more genes
    nsv5884977copy number variation1nstd209human GRCh38 chr2: 38,780,882-38,781,220 , GRCh37.p13 chr2: 39,008,024-39,008,362 GEMIN6
    nsv5881908copy number variation1nstd209human GRCh38 chr2: 38,783,437-38,783,576 , GRCh37.p13 chr2: 39,010,579-39,010,718 GEMIN6
    nsv5435630copy number variation1nstd206human GRCh38 chr2: 38,780,512-38,780,801 , GRCh37.p13 chr2: 39,007,654-39,007,943 GEMIN6
    nsv5295298copy number variation1nstd204human GRCh38.p13 chr2: 38,771,211-38,777,712 , GRCh37.p13 chr2: 38,998,353-39,004,854 GEMIN6
    nsv5218551copy number variation1nstd204human GRCh38.p13 chr2: 38,771,502-38,777,677 , GRCh37.p13 chr2: 38,998,644-39,004,819 GEMIN6
    nsv5209705copy number variation1nstd204human GRCh37.p13 chr2: 38,972,543-39,070,342 , GRCh38.p13 chr2: 38,745,401-38,843,200 ASS1P2, SRSF7, 5 more genes
    nsv5067584mobile element insertion1nstd203human GRCh38 chr2: 38,777,886-38,777,901 , GRCh37.p13 chr2: 39,005,028-39,005,043 GEMIN6
    nsv4908566copy number variation1nstd200human GRCh38 chr2: 38,780,013-38,782,712 , GRCh37.p13 chr2: 39,007,155-39,009,854 GEMIN6
    nsv4901274copy number variation1nstd200human GRCh38 chr2: 38,771,219-38,777,705 , GRCh37.p13 chr2: 38,998,361-39,004,847 GEMIN6
    nsv4901273copy number variation1nstd200human GRCh38 chr2: 38,758,705-38,776,859 , GRCh37.p13 chr2: 38,985,847-39,004,001 TTC39DP, NPLP1, 1 more genes
    nsv4786212mobile element deletion1nstd200human GRCh37 chr2: 39,008,060-39,008,451 , GRCh38.p12 chr2: 38,780,918-38,781,309 GEMIN6
    nsv4776205copy number variation1nstd200human GRCh37 chr2: 38,998,361-39,004,847 , GRCh38.p12 chr2: 38,771,219-38,777,705 GEMIN6
    nsv4728394copy number variation1nstd102humanUncertain significance GRCh37 chr2: 38,012,532-39,548,268 , GRCh38.p12 chr2: 37,785,389-39,321,127 ATL2, LOC375196, 37 more genes
    nsv4595552copy number variation1nstd183human GRCh37 chr2: 38,989,885-39,041,780 , GRCh38.p12 chr2: 38,762,743-38,814,638 ASS1P2, TTC39DP, 3 more genes
    nsv4466173mobile element insertion1nstd166human GRCh37.p13 chr2: 39,003,448-39,003,448 , GRCh38.p12 chr2: 38,776,306-38,776,306 GEMIN6
    nsv4335876sequence alteration1nstd166human GRCh37.p13 chr2: 20,021,666-53,788,063 , GRCh38.p12 chr2: 19,821,905-53,560,926 , ADCY3, 531 more genes
    nsv4331174inversion1nstd166human GRCh37.p13 chr2: 36,139,982-53,112,348 , GRCh38.p12 chr2: 35,914,916-52,885,210 , ASS1P2, 247 more genes
    nsv4318621inversion1nstd166human GRCh37.p13 chr2: 21,612,232-41,909,281 , GRCh38.p12 chr2: 21,389,360-41,682,141 , CAD, 329 more genes
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