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Items: 1 to 20 of 303

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5950580insertion1nstd209human GRCh38 chr2: 176,299,949-176,299,949 , GRCh37.p13 chr2: 177,164,677-177,164,677 MTX2
    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
    nsv5536331insertion1nstd206human GRCh38 chr2: 176,299,949-176,299,949 , GRCh37.p13 chr2: 177,164,677-177,164,677 MTX2
    nsv5452465copy number variation1nstd206human GRCh38 chr2: 176,262,626-176,278,339 , GRCh37.p13 chr2: 177,127,354-177,143,067 MTX2
    nsv5450465copy number variation1nstd206human GRCh38 chr2: 176,293,226-176,295,828 , GRCh37.p13 chr2: 177,157,954-177,160,556 MTX2
    nsv5447919copy number variation1nstd206human GRCh38 chr2: 176,299,374-176,342,134 , GRCh37.p13 chr2: 177,164,102-177,206,862 PPIAP67, MTX2
    nsv5447270copy number variation1nstd206human GRCh38 chr2: 176,290,553-176,292,577 , GRCh37.p13 chr2: 177,155,281-177,157,305 MTX2
    nsv5435309copy number variation1nstd206human GRCh38 chr2: 176,331,906-176,334,608 , GRCh37.p13 chr2: 177,196,634-177,199,336 MTX2
    nsv5381341copy number variation1nstd102humanPathogenic GRCh37 chr2: 171,999,572-182,774,361 , GRCh38.p12 chr2: 171,143,062-181,909,634 ALDH7A1P2, LOC101927055, 174 more genes
    nsv5366664translocation1nstd200human GRCh38 chr2: 176,299,950-176,299,950 , GRCh38 chr10: 95,291,035-95,291,035 , GRCh37.p13 chr10: 97,050,792-97,050,792 , GRCh37.p13 chr2: 177,164,678-177,164,678 MTX2, PDLIM1
    nsv5330308translocation1nstd200human GRCh37 chr10: 97,050,792-97,050,792 , GRCh37 chr2: 177,164,678-177,164,678 , GRCh38.p12 chr10: 95,291,035-95,291,035 , GRCh38.p12 chr2: 176,299,950-176,299,950 PDLIM1, MTX2
    nsv5324620translocation1nstd204human GRCh37.p13 chr10: 97,050,791-97,050,791 , GRCh37.p13 chr2: 177,164,678-177,164,678 , GRCh38.p13 chr2: 176,299,950-176,299,950 , GRCh38.p13 chr10: 95,291,034-95,291,034 PDLIM1, MTX2
    nsv5213350copy number variation1nstd204human GRCh38.p13 chr2: 176,327,201-176,334,700 , GRCh37.p13 chr2: 177,191,929-177,199,428 MTX2
    nsv5212728copy number variation1nstd204human GRCh38.p13 chr2: 176,301,201-176,305,400 , GRCh37.p13 chr2: 177,165,929-177,170,128 MTX2
    nsv5201287copy number variation1nstd204human GRCh38.p13 chr2: 176,320,701-176,328,800 , GRCh37.p13 chr2: 177,185,429-177,193,528 MTX2
    nsv5033955inversion1nstd200human GRCh38 chr2: 103,800,446-187,202,765 , GRCh37.p13 chr2: 104,416,904-188,067,492 , EDDM3CP, 1184 more genes
    nsv4909758copy number variation1nstd200human GRCh38 chr2: 176,331,906-176,334,608 , GRCh37.p13 chr2: 177,196,634-177,199,336 MTX2
    nsv4909757copy number variation1nstd200human GRCh38 chr2: 176,290,703-176,292,596 , GRCh37.p13 chr2: 177,155,431-177,157,324 MTX2
    nsv4909756copy number variation1nstd200human GRCh38 chr2: 176,275,380-176,277,442 , GRCh37.p13 chr2: 177,140,108-177,142,170 MTX2
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