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Items: 1 to 20 of 278

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5980234inversion1nstd209human GRCh38 chr2: 130,052,690-131,284,721 , GRCh37.p13 chr2: 130,810,263-132,042,294 , PTPN18, 55 more genes
    nsv5968094inversion1nstd209human GRCh38 chr2: 130,018,896-131,305,572 , GRCh37.p13 chr2: 130,776,469-132,063,145 , PTPN18, 61 more genes
    nsv5830979copy number variation2nstd209human GRCh38 chr2: 130,138,558-130,140,398 , GRCh37.p13 chr2: 130,896,131-130,897,971 MED15P9, CCDC74B
    nsv5830978copy number variation2nstd209human GRCh38 chr2: 130,128,173-130,137,617 , GRCh37.p13 chr2: 130,885,746-130,895,190 MED15P9, POTEF, 1 more genes
    nsv5665937inversion1nstd207human GRCh38 chr2: 130,138,213-131,531,319 , GRCh37.p13 chr2: 130,895,786-132,288,892 , GNAQP1, 84 more genes
    nsv5558142mobile element insertion1nstd206human GRCh38 chr2: 102,295,972-141,288,199 , GRCh37.p13 chr2: 102,912,432-142,045,768 , LOC105373587, 623 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
    nsv5449088copy number variation1nstd206human GRCh38 chr2: 130,087,618-130,459,618 , GRCh37.p13 chr2: 130,845,191-131,217,191 NOC2LP1, PTPN18, 32 more genes
    nsv5447986copy number variation1nstd206human GRCh38 chr2: 130,077,000-130,246,000 , GRCh37.p13 chr2: 130,834,573-131,003,573 RNU6-1049P, MZT2B, 8 more genes
    nsv5444977copy number variation1nstd206human GRCh38 chr2: 130,101,488-130,129,618 , GRCh37.p13 chr2: 130,859,061-130,887,191 POTEF, RNU6-1049P, 2 more genes
    nsv5443971copy number variation1nstd206human GRCh38 chr2: 130,055,618-130,497,618 , GRCh37.p13 chr2: 130,813,191-131,255,191 MZT2B, NOC2LP1, 33 more genes
    nsv5434373copy number variation1nstd206human GRCh38 chr2: 130,129,618-130,140,809 , GRCh37.p13 chr2: 130,887,191-130,898,382 CCDC74B, POTEF, 1 more genes
    nsv5380663translocation1nstd200human GRCh38 chr2: 130,132,631-130,132,631 , GRCh38 chr2: 131,206,355-131,206,355 , GRCh37.p13 chr2: 131,963,928-131,963,928 , GRCh37.p13 chr2: 130,890,204-130,890,204 MED15P9
    nsv5214956copy number variation1nstd204human GRCh37.p13 chr2: 130,864,961-130,954,991 , GRCh38.p13 chr2: 130,107,388-130,197,418 SMPD4, MZT2B, 6 more genes
    nsv5213820copy number variation1nstd204human GRCh38.p13 chr2: 130,137,701-130,138,500 , GRCh37.p13 chr2: 130,895,274-130,896,073 CCDC74B, MED15P9
    nsv5207903copy number variation1nstd204human GRCh38.p13 chr2: 130,128,173-130,137,438 , GRCh37.p13 chr2: 130,885,746-130,895,011 MED15P9, CCDC74B, 1 more genes
    nsv5204703copy number variation1nstd204human GRCh38.p13 chr2: 130,102,083-130,137,617 , GRCh37.p13 chr2: 130,859,656-130,895,190 POTEF, RNU6-1049P, 3 more genes
    nsv5201992copy number variation1nstd204human GRCh38.p13 chr2: 130,131,768-130,140,721 , GRCh37.p13 chr2: 130,889,341-130,898,294 MED15P9, CCDC74B
    nsv5188419mobile element insertion1nstd203human GRCh38 chr2: 130,138,107-130,138,121 , GRCh37.p13 chr2: 130,895,680-130,895,694 MED15P9, CCDC74B
    nsv5035923inversion1nstd200human GRCh38 chr2: 83,726,586-172,391,178 , GRCh37.p13 chr2: 83,953,710-173,255,906 , MTND2P21, 1427 more genes
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