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Items: 1 to 20 of 284

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6130884insertion1nstd186human GRCh37 chr21: 10,697,897-44,966,043 , GRCh38.p12 chr21: 12,965,809-43,546,162 , APP, 533 more genes
    nsv5979500inversion1nstd209human GRCh38 chr21: 22,252,993-27,920,987 , GRCh37.p13 chr21: 23,625,313-29,293,306 , APP, 60 more genes
    nsv5965857copy number variation1nstd209human GRCh38 chr21: 14,377,888-22,678,896 , GRCh37.p13 chr21: 15,750,209-24,051,216 , LOC107985508, 80 more genes
    nsv5539790insertion1nstd206human GRCh38 chr21: 5,227,438-39,583,816 , GRCh37.p13 chr21: 10,697,897-44,966,043 , LOC100419041, 557 more genes
    nsv5528346copy number variation1nstd206human GRCh38 chr21: 22,466,445-22,574,470 , GRCh37.p13 chr21: 23,838,765-23,946,789 LOC107985494
    nsv5341870translocation1nstd200human GRCh37 chr21: 23,926,167-23,926,167 , GRCh37 chr21: 23,934,765-23,934,765 , GRCh38.p12 chr21: 22,553,848-22,553,848 , GRCh38.p12 chr21: 22,562,446-22,562,446 LOC107985494
    nsv5036990inversion1nstd200human GRCh38 chr21: 21,590,024-25,090,354 , GRCh37.p13 chr21: 22,962,345-26,462,667 , LINC01692, 25 more genes
    nsv5023148copy number variation1nstd200human GRCh38 chr21: 22,545,761-22,713,180 , GRCh37.p13 chr21: 23,918,080-24,085,500 LOC107985494
    nsv5023146copy number variation1nstd200human GRCh38 chr21: 22,529,386-22,651,206 , GRCh37.p13 chr21: 23,901,705-24,023,525 LOC107985494
    nsv5023137copy number variation1nstd200human GRCh38 chr21: 22,466,445-22,574,470 , GRCh37.p13 chr21: 23,838,765-23,946,789 LOC107985494
    nsv5023127copy number variation1nstd200human GRCh38 chr21: 22,341,245-22,634,905 , GRCh37.p13 chr21: 23,713,565-24,007,224 , LOC107985508, 2 more genes
    nsv5023118copy number variation1nstd200human GRCh38 chr21: 22,197,787-22,674,268 , GRCh37.p13 chr21: 23,601,211-24,046,588 , RNU4-45P, 3 more genes
    nsv4862825copy number variation1nstd200human GRCh37 chr21: 23,901,705-24,023,525 , GRCh38.p12 chr21: 22,529,386-22,651,206 LOC107985494
    nsv4758019inversion1nstd199human GRCh37 chr21: 23,626,191-29,293,562 , GRCh38.p12 chr21: 22,253,871-27,921,243 , APP, 60 more genes
    nsv4752017insertion1nstd199human GRCh37 chr21: 23,928,399-23,928,399 , GRCh38.p12 chr21: 22,556,080-22,556,080 LOC107985494
    nsv4730021copy number variation1nstd102humanPathogenic GRCh37 chr21: 14,629,063-48,090,317 , GRCh38.p12 chr21: 13,256,742-46,670,405 SLX9, LOC105372750, 619 more genes
    nsv4729882copy number variation1nstd102humanLikely benign GRCh37 chr21: 23,038,731-24,605,319 , GRCh38.p12 chr21: 21,666,410-23,232,997 MIR6130, MAPK6P2, 10 more genes
    nsv4729781copy number variation1nstd102humanUncertain significance GRCh37 chr21: 21,315,654-24,758,721 , GRCh38.p12 chr21: 19,943,340-23,386,400 LOC107985494, LOC105372745, 22 more genes
    nsv4679058copy number variation1nstd189human GRCh37.p13 chr21: 14,468,835-48,129,895 , GRCh38.p12 chr21: 13,096,514-46,699,983 , ADARB1, 652 more genes
    nsv4676306copy number variation1nstd102humanPathogenic GRCh37 chr21: 15,006,457-29,325,923 , GRCh38.p12 chr21: 13,634,136-27,953,605 JAM2, LINC01549, 161 more genes
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