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Items: 1 to 20 of 344

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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
    nsv5830981copy number variation2nstd209human GRCh38 chr2: 130,167,051-130,176,859 , GRCh37.p13 chr2: 130,924,624-130,934,432 SMPD4
    nsv5830980copy number variation2nstd209human GRCh38 chr2: 130,145,851-130,158,571 , GRCh37.p13 chr2: 130,903,424-130,916,144 SMPD4
    nsv5665937inversion1nstd207human GRCh38 chr2: 130,138,213-131,531,319 , GRCh37.p13 chr2: 130,895,786-132,288,892 , GNAQP1, 84 more genes
    nsv5583380copy number variation1nstd207human GRCh38 chr2: 130,165,207-130,166,107 , GRCh37.p13 chr2: 130,922,780-130,923,680 SMPD4
    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
    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
    nsv5441542copy number variation1nstd206human GRCh38 chr2: 130,160,799-130,160,854 , GRCh37.p13 chr2: 130,918,372-130,918,427 SMPD4
    nsv5215290copy number variation1nstd204human GRCh38.p13 chr2: 130,162,063-130,163,368 , GRCh37.p13 chr2: 130,919,636-130,920,941 SMPD4
    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
    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
    nsv4926055copy number variation1nstd200human GRCh38 chr2: 130,177,368-130,180,207 , GRCh37.p13 chr2: 130,934,941-130,937,780 SMPD4
    nsv4879764inversion1nstd200human GRCh37 chr2: 104,416,904-188,067,492 , GRCh38.p12 chr2: 103,800,446-187,202,765 , ACMSD, 1184 more genes
    nsv4684238copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 122,952,356-133,826,358 , GRCh38.p12 chr2: 122,194,780-133,068,785 BIN1, ERCC3, 211 more genes
    nsv4680080copy number variation1nstd189human GRCh37.p13 chr2: 130,372,050-131,039,688 , GRCh38.p12 chr2: 129,614,477-130,282,115 SMPD4, MZT2B, 35 more genes
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