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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137707copy number variation1nstd102humanPathogenic GRCh37 chr16: 29,565,626-30,221,925 , GRCh38.p12 chr16: 29,554,305-30,210,604 TAOK2, SLC7A5P1, 44 more genes
    nsv6129956insertion1nstd186human GRCh37 chr19: 34,883,088-34,883,088 , GRCh38.p12 chr19|NT_187619.1: 41,430-41,430 , GRCh38.p12 chr19: 34,392,183-34,392,183 GPI
    nsv6126384insertion1nstd186human GRCh37 chr1: 8,929,303-8,929,311 , GRCh38.p12 chr1: 8,869,244-8,869,252 ENO1
    nsv6124847copy number variation1nstd186human GRCh37 chr21: 45,725,942-45,725,996 , GRCh38.p12 chr21: 44,306,059-44,306,113 PFKL
    nsv6112812copy number variation1nstd102humanPathogenic GRCh37 chr16: 29,675,050-30,200,008 , GRCh38.p12 chr16: 29,663,729-30,188,687 INO80E, QPRT, 33 more genes
    nsv6112806copy number variation1nstd102humanPathogenic GRCh37 chr16: 29,675,050-30,218,221 , GRCh38.p12 chr16: 29,663,729-30,206,900 YPEL3-DT, PAGR1, 38 more genes
    nsv6112788copy number variation1nstd102humanPathogenic GRCh37 chr16: 29,615,859-30,199,454 , GRCh38.p12 chr16: 29,604,538-30,188,133 ALDOA, MVP, 36 more genes
    nsv6112763copy number variation1nstd102humanPathogenic GRCh37 chr12: 189,145-7,730,395 , GRCh38.p12 chr12: 79,979-7,577,799 GALNT8, LINC02371, 197 more genes
    nsv6112690copy number variation1nstd102humanPathogenic GRCh37 chrX: 60,000-155,234,966 , GRCh38.p12 chrX: 10,001-156,005,301 LOC105373176, ZFX-AS1, 2151 more genes
    nsv6112670copy number variation1nstd102humanUncertain significance GRCh38 chrX: 77,957,506-78,280,549 , GRCh37.p13 chrX|NW_003871101.3: 514,768-752,267 , GRCh37.p13 chrX: 77,213,003-77,450,502 PGAM4, C4orf46P2, 6 more genes
    nsv5980454copy number variation1nstd102humanPathogenic GRCh37 chr16: 29,545,794-30,307,472 , GRCh38.p12 chr16: 29,534,473-30,296,151 LOC105371167, MIR3680-2, 46 more genes
    nsv5977326inversion1nstd209human GRCh38 chr5: 176,286,704-177,635,736 , GRCh37.p13 chr5: 175,713,707-177,062,737 , CLTB, 46 more genes
    nsv5968724inversion1nstd209human GRCh38 chr12: 6,473,720-6,709,618 , GRCh37.p13 chr12: 6,582,886-6,818,784 CHD4, GAPDH, 15 more genes
    nsv5968401insertion1nstd209human GRCh38 chr21: 44,303,422-44,303,422 , GRCh37.p13 chr21: 45,723,305-45,723,305 PFKL
    nsv5966715insertion1nstd209human GRCh38 chr2: 74,882,605-74,882,605 , GRCh37.p13 chr2: 75,109,732-75,109,732 HK2
    nsv5966561insertion1nstd209human GRCh38 chr10: 3,135,937-3,135,937 , GRCh37.p13 chr10: 3,178,129-3,178,129 PFKP, PITRM1
    nsv5965952copy number variation1nstd209human GRCh38 chr21: 44,306,488-44,306,618 , GRCh37.p13 chr21: 45,726,371-45,726,501 PFKL
    nsv5963106insertion1nstd209human GRCh38 chr2: 74,870,477-74,870,477 , GRCh37.p13 chr2: 75,097,604-75,097,604 HK2
    nsv5960174insertion1nstd209human GRCh38 chr10: 69,381,715-69,381,715 , GRCh37.p13 chr10: 71,141,471-71,141,471 HK1
    nsv5958493insertion1nstd209human GRCh38 chr10: 69,332,384-69,332,384 , GRCh37.p13 chr10: 71,092,140-71,092,140 HK1
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