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Items: 1 to 20 of 191

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099215copy number variation1nstd231human GRCh38.p12 chr1: 84,991,383-97,594,649 , GRCh37 chr1: 85,457,066-98,060,205 ABCA4, BRDT, 220 more genes
    nsv6657112copy number variation1nstd229human GRCh38 chr1: 92,221,170-92,226,761 , GRCh37.p13 chr1: 92,686,727-92,692,318 C1orf146
    nsv6657111copy number variation1nstd229human GRCh38 chr1: 92,218,662-92,218,706 , GRCh37.p13 chr1: 92,684,219-92,684,263 C1orf146
    nsv6656306copy number variation1nstd229human GRCh38 chr1: 92,212,617-92,217,341 , GRCh37.p13 chr1: 92,678,174-92,682,898 C1orf146
    nsv6636250copy number variation1nstd102humanUncertain significance GRCh37 chr1: 92,157,808-92,714,991 , GRCh38.p12 chr1: 91,692,251-92,249,434 RN7SL653P, SETSIP, 11 more genes
    nsv6536240inversion1nstd223human GRCh38 chr1: 92,222,232-92,222,594 , GRCh37.p13 chr1: 92,687,789-92,688,151 C1orf146
    nsv6334739copy number variation1nstd223human GRCh38 chr1: 91,095,691-93,048,861 , GRCh37.p13 chr1: 91,561,248-93,514,418 LOC107985417, BRDT, 38 more genes
    nsv6319663copy number variation1nstd223human GRCh38 chr1: 92,211,704-92,216,405 , GRCh37.p13 chr1: 92,677,261-92,681,962 C1orf146
    nsv6313881copy number variation1nstd102humanPathogenic GRCh37 chr1: 92,626,657-93,345,442 , GRCh38.p12 chr1: 92,161,100-92,879,885 LOC100419803, RNU4-59P, 16 more genes
    nsv6313574copy number variation1nstd102humanPathogenic GRCh37 chr1: 68,180,293-92,731,957 , GRCh38.p12 chr1: 67,714,610-92,266,400 RNA5SP51, ADGRL4, 315 more genes
    nsv6244364mobile element insertion1nstd215human GRCh38 chr1: 92,243,283-92,243,283 , GRCh37.p13 chr1: 92,708,840-92,708,840 C1orf146
    nsv6138597copy number variation1nstd206human GRCh38 chr1: 92,230,797-92,232,093 , GRCh37.p13 chr1: 92,696,354-92,697,650 C1orf146
    nsv6048364insertion1nstd212human GRCh38 chr1: 92,223,940-92,223,940 , GRCh37.p13 chr1: 92,689,497-92,689,497 C1orf146
    nsv5724925mobile element insertion1nstd211human GRCh38 chr1: 92,237,947-92,237,947 , GRCh37.p13 chr1: 92,703,504-92,703,504 C1orf146
    nsv5692182mobile element insertion1nstd211human GRCh38 chr1: 92,243,283-92,243,283 , GRCh37.p13 chr1: 92,708,840-92,708,840 C1orf146
    nsv5562924mobile element insertion1nstd206human GRCh38 chr1: 92,237,947-92,237,998 , GRCh37.p13 chr1: 92,703,504-92,703,555 C1orf146
    nsv5427631copy number variation1nstd206human GRCh38 chr1: 92,230,805-92,231,964 , GRCh37.p13 chr1: 92,696,362-92,697,521 C1orf146
    nsv5412122mobile element insertion1nstd206human GRCh38 chr1: 92,243,283-92,243,334 , GRCh37.p13 chr1: 92,708,840-92,708,891 C1orf146
    nsv5204099copy number variation1nstd204human GRCh38.p13 chr1: 92,234,218-92,236,345 , GRCh37.p13 chr1: 92,699,775-92,701,902 C1orf146
    nsv5075660mobile element insertion1nstd203human GRCh38 chr1: 92,243,275-92,243,280 , GRCh37.p13 chr1: 92,708,832-92,708,837 C1orf146
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