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Items: 1 to 20 of 170

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5972650inversion1nstd209human GRCh38 chr1: 229,174,728-232,234,598 , GRCh37.p13 chr1: 229,310,475-232,370,344 , ACTA1, 68 more genes
    nsv5971633inversion1nstd209human GRCh38 chr1: 229,416,331-231,831,980 , GRCh37.p13 chr1: 229,552,078-231,967,726 , ACTA1, 56 more genes
    nsv5716910mobile element insertion1nstd211human GRCh38 chr1: 230,846,031-230,846,031 , GRCh37.p13 chr1: 230,981,777-230,981,777 C1orf198
    nsv5559580mobile element insertion1nstd206human GRCh38 chr1: 230,846,031-230,846,082 , GRCh37.p13 chr1: 230,981,777-230,981,828 C1orf198
    nsv5445147copy number variation1nstd206human GRCh38 chr1: 230,482,037-231,277,187 , GRCh37.p13 chr1: 230,617,783-231,412,933 , LOC644006, 24 more genes
    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
    nsv5356014translocation1nstd200human GRCh38 chr1: 230,844,720-230,844,720 , GRCh38 chr1: 230,844,183-230,844,183 , GRCh37.p13 chr1: 230,979,929-230,979,929 , GRCh37.p13 chr1: 230,980,466-230,980,466 C1orf198
    nsv4904449copy number variation1nstd200human GRCh38 chr1: 230,786,979-231,254,882 , GRCh37.p13 chr1: 230,922,725-231,390,628 RNA5SP79, LOC107985359, 15 more genes
    nsv4904446copy number variation1nstd200human GRCh38 chr1: 230,482,037-231,277,187 , GRCh37.p13 chr1: 230,617,783-231,412,933 , GNPAT, 24 more genes
    nsv4785246copy number variation1nstd200human GRCh37 chr1: 230,979,929-230,980,466 , GRCh38.p12 chr1: 230,844,183-230,844,720 C1orf198
    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
    nsv4684187copy number variation1nstd102humanPathogenic GRCh37 chr1: 210,152,794-249,218,992 , GRCh38.p12 chr1: 209,979,449-248,924,793 HLX-AS1, OPN3, 740 more genes
    nsv4674785copy number variation1nstd102humanPathogenic GRCh37 chr1: 219,916,966-239,004,378 , GRCh38.p12 chr1: 219,743,624-238,841,078 RPL23AP23, LOC101927143, 414 more genes
    nsv4674437copy number variation1nstd102humanUncertain significance GRCh37 chr1: 230,616,084-231,410,027 , GRCh38.p12 chr1: 230,480,338-231,274,281 MIR1182, ARV1, 23 more genes
    nsv4674170copy number variation1nstd102humanPathogenic GRCh37 chr1: 228,832,737-240,993,877 , GRCh38.p12 chr1: 228,696,990-240,830,577 LOC105373224, NUP133-DT, 208 more genes
    nsv4674140copy number variation1nstd102humanPathogenic GRCh37 chr1: 204,045,948-249,218,992 , GRCh38.p12 chr1: 204,076,820-248,924,793 RNA5S8, NTPCR, 893 more genes
    nsv4674115copy number variation1nstd102humanPathogenic GRCh37 chr1: 223,653,722-234,591,807 , GRCh38.p12 chr1: 223,480,380-234,456,061 LOC105373163, CDC42BPA, 258 more genes
    nsv4571238mobile element insertion1nstd166human GRCh37.p13 chr1: 230,983,591-230,983,591 , GRCh38.p12 chr1: 230,847,845-230,847,845 C1orf198
    nsv4461053mobile element insertion1nstd166human GRCh37.p13 chr1: 230,994,821-230,994,821 , GRCh38.p12 chr1: 230,859,075-230,859,075 C1orf198
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