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Items: 1 to 20 of 160

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5954505insertion1nstd209human GRCh38 chr1: 156,265,246-156,265,246 , GRCh37.p13 chr1: 156,235,037-156,235,037 SMG5
    nsv5433455copy number variation1nstd206human GRCh38 chr1: 156,281,269-156,281,376 , GRCh37.p13 chr1: 156,251,060-156,251,167 TMEM79, SMG5
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv5209284copy number variation1nstd204human GRCh38.p13 chr1: 156,136,401-156,327,400 , GRCh37.p13 chr1: 156,106,192-156,297,191 PAQR6, SEMA4A, 10 more genes
    nsv5077130mobile element insertion1nstd203human GRCh38 chr1: 156,271,661-156,271,706 , GRCh37.p13 chr1: 156,241,452-156,241,497 SMG5
    nsv4903927copy number variation1nstd200human GRCh38 chr1: 156,291,691-156,308,597 , GRCh37.p13 chr1: 156,261,482-156,278,388 SMG5, VHLL, 3 more genes
    nsv4903926copy number variation1nstd200human GRCh38 chr1: 156,264,050-156,264,920 , GRCh37.p13 chr1: 156,233,841-156,234,711 SMG5
    nsv4897584copy number variation1nstd200human GRCh38 chr1: 156,269,569-156,270,847 , GRCh37.p13 chr1: 156,239,360-156,240,638 SMG5
    nsv4784336copy number variation1nstd200human GRCh37 chr1: 156,239,428-156,240,610 , GRCh38.p12 chr1: 156,269,637-156,270,819 SMG5
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4659672copy number variation2nstd186human GRCh37 chr1: 156,247,969-156,248,013 , GRCh38.p12 chr1: 156,278,178-156,278,222 SMG5
    nsv4593982copy number variation1nstd183human GRCh37 chr1: 156,252,628-156,252,818 , GRCh38.p12 chr1: 156,282,837-156,283,027 SMG5, TMEM79
    nsv4579485copy number variation2nstd183human GRCh37 chr1: 156,247,969-156,248,013 , GRCh38.p12 chr1: 156,278,178-156,278,222 SMG5
    nsv4579381copy number variation1nstd183human GRCh37 chr1: 156,247,969-156,248,559 , GRCh38.p12 chr1: 156,278,178-156,278,768 SMG5
    nsv4579380copy number variation1nstd183human GRCh37 chr1: 156,247,875-156,248,013 , GRCh38.p12 chr1: 156,278,084-156,278,222 SMG5
    nsv4516795copy number variation1nstd166human GRCh37.p13 chr1: 156,239,431-156,240,610 , GRCh38.p12 chr1: 156,269,640-156,270,819 SMG5
    nsv4452451copy number variation1nstd102humanUncertain significance GRCh37 chr1: 156,037,369-156,463,980 , GRCh38.p12 chr1: 156,067,578-156,494,188 MIR9-1HG, TSACC, 17 more genes
    nsv4452342copy number variation1nstd102humanUncertain significance GRCh37 chr1: 155,770,505-156,652,136 , GRCh38.p12 chr1: 155,800,714-156,682,344 NES, SNORA80E, 43 more genes
    nsv4382323copy number variation1nstd173human GRCh37 chr1: 156,206,121-156,233,636 , GRCh38.p12 chr1: 156,236,330-156,263,845 PMF1, PMF1-BGLAP, 3 more genes
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