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Items: 1 to 20 of 386

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7143482insertion1nstd232human GRCh37.p13 chr21: 46,413,812-46,413,812 , GRCh38.p12 chr21: 44,993,897-44,993,897 LINC00163
    nsv7096096copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr21: 43,160,998-47,754,702 , GRCh38.p12 chr21: 41,740,838-46,334,788 TSPEAR, LINC01424, 158 more genes
    nsv7064241inversion1nstd229human GRCh38 chr21: 44,592,143-45,117,141 , GRCh37.p13 chr21: 46,223,847-46,537,056 KRTAP10-12, LINC01547, 27 more genes
    nsv7062362inversion1nstd229human GRCh38 chr21: 44,982,942-45,022,247 , GRCh37.p13 chr21: 46,402,857-46,442,162 LINC00163, PICSAR
    nsv7062120inversion1nstd229human GRCh38 chr21: 44,886,478-45,014,837 , GRCh37.p13 chr21: 46,306,393-46,434,752 SLX9, LINC00163, 5 more genes
    nsv7037464copy number variation1nstd229human GRCh38 chr21: 44,830,901-45,182,100 , GRCh37.p13 chr21: 46,250,816-46,602,015 PICSAR, LOC105372836, 9 more genes
    nsv7035560copy number variation1nstd229human GRCh38 chr21: 44,978,801-45,002,100 , GRCh37.p13 chr21: 46,398,716-46,422,015 PICSAR, LINC00163
    nsv7030987copy number variation1nstd229human GRCh38 chr21: 44,984,990-44,988,537 , GRCh37.p13 chr21: 46,404,905-46,408,452 LINC00163
    nsv7026059copy number variation1nstd229human GRCh38 chr21: 44,879,055-45,140,669 , GRCh37.p13 chr21: 46,298,970-46,560,584 LINC00163, ADARB1, 8 more genes
    nsv7018478copy number variation1nstd229human GRCh38 chr21: 44,815,879-45,213,543 , GRCh37.p13 chr21: 46,235,794-46,633,458 PICSAR, ITGB2, 10 more genes
    nsv7018441copy number variation1nstd229human GRCh38 chr21: 44,887,872-45,050,135 , GRCh37.p13 chr21: 46,307,787-46,470,050 LOC107987303, LINC00163, 5 more genes
    nsv7018192copy number variation1nstd229human GRCh38 chr21: 44,959,542-45,647,565 , GRCh37.p13 chr21: 46,379,457-47,067,479 LINC00163, LINC01694, 19 more genes
    nsv6638033copy number variation1nstd102humanUncertain significance GRCh37 chr21: 46,247,514-46,657,568 , GRCh38.p12 chr21: 44,827,599-45,237,653 ITGB2-AS1, SSR4P1, 10 more genes
    nsv6634428copy number variation1nstd102humanPathogenic GRCh37 chr21: 45,808,650-47,529,568 , GRCh38.p12 chr21: 44,388,767-46,109,654 KRTAP12-5P, MTCYBP21, 64 more genes
    nsv6626884copy number variation1nstd224human GRCh37 chr21: 46,399,293-46,439,894 , GRCh38.p12 chr21: 44,979,378-45,019,979 LINC00163, PICSAR
    nsv6626624copy number variation1nstd224human GRCh37 chr21: 1-48,129,895 , GRCh38.p12 chr21: 8,522,361-46,699,983 , ATP5PO, 657 more genes
    nsv6599512inversion1nstd223human GRCh38 chr21: 43,690,612-45,780,509 , GRCh37.p13 chr21: 45,110,493-47,200,423 ADARB1, AIRE, 84 more genes
    nsv6599116inversion1nstd223human GRCh38 chr21: 43,689,244-45,912,414 , GRCh37.p13 chr21: 45,109,125-47,332,328 ADARB1, AIRE, 85 more genes
    nsv6597822inversion1nstd223human GRCh38 chr21: 44,886,476-45,014,835 , GRCh37.p13 chr21: 46,306,391-46,434,750 ITGB2, LINC01547, 5 more genes
    nsv6548625copy number variation1nstd223human GRCh38 chr21: 44,976,301-44,997,400 , GRCh37.p13 chr21: 46,396,216-46,417,314 PICSAR, SLX9, 1 more genes
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