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Items: 1 to 20 of 245

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099194copy number variation1nstd231human GRCh38.p12 chr1: 39,146,492-41,396,453 , GRCh37 chr1: 39,612,164-41,862,125 BMP8B, COL9A2, 65 more genes
    nsv7057906inversion1nstd229human GRCh38 chr1: 39,433,831-39,498,263 , GRCh37.p13 chr1: 39,899,503-39,963,935 MACF1, BMP8A
    nsv7052350inversion1nstd229human GRCh38 chr1: 39,475,769-39,791,589 , GRCh37.p13 chr1: 39,941,441-40,257,261 HPCAL4, BMP8A, 16 more genes
    nsv7049707inversion1nstd229human GRCh38 chr1: 39,504,927-39,572,381 , GRCh37.p13 chr1: 39,970,599-40,038,053 OXCT2P1, BMP8A, 5 more genes
    nsv7048553inversion1nstd229human GRCh38 chr1: 39,509,885-39,776,300 , GRCh37.p13 chr1: 39,975,557-40,241,972 HEYL, HPCAL4, 12 more genes
    nsv7044183inversion1nstd229human GRCh38 chr1: 39,523,140-39,713,347 , GRCh37.p13 chr1: 39,988,812-40,179,019 HEYL, HPCAL4, 6 more genes
    nsv7041039inversion1nstd229human GRCh38 chr1: 39,509,853-39,778,286 , GRCh37.p13 chr1: 39,975,525-40,243,958 HEYL, PABPC4, 13 more genes
    nsv6649787copy number variation1nstd229human GRCh38 chr1: 39,510,601-39,684,100 , GRCh37.p13 chr1: 39,976,273-40,149,772 PABPC4-AS1, OXCT2P1, 7 more genes
    nsv6649127copy number variation1nstd229human GRCh38 chr1: 39,490,401-39,492,300 , GRCh37.p13 chr1: 39,956,073-39,957,972 BMP8A
    nsv6555552inversion1nstd223human GRCh38 chr1: 39,475,781-39,791,614 , GRCh37.p13 chr1: 39,941,453-40,257,286 BMP8A, BMP8B-AS1, 16 more genes
    nsv6555259inversion1nstd223human GRCh38 chr1: 39,522,949-39,763,285 , GRCh37.p13 chr1: 39,988,621-40,228,957 LOC100128091, NT5C1A, 10 more genes
    nsv6554354inversion1nstd223human GRCh38 chr1: 39,495,135-39,785,640 , GRCh37.p13 chr1: 39,960,807-40,251,312 LOC100128091, PPIEL, 14 more genes
    nsv6548849inversion1nstd223human GRCh38 chr1: 39,475,763-39,791,530 , GRCh37.p13 chr1: 39,941,435-40,257,202 RNU7-121P, LOC101929536, 16 more genes
    nsv6544043inversion1nstd223human GRCh38 chr1: 39,493,181-39,787,246 , GRCh37.p13 chr1: 39,958,853-40,252,918 PPIEL, LOC100128091, 15 more genes
    nsv6541973inversion1nstd223human GRCh38 chr1: 39,495,195-39,785,623 , GRCh37.p13 chr1: 39,960,867-40,251,295 PABPC4-AS1, OXCT2P1, 14 more genes
    nsv6329571copy number variation1nstd223human GRCh38 chr1: 39,504,326-39,504,784 , GRCh37.p13 chr1: 39,969,998-39,970,456 BMP8A, TRK-CTT12-1
    nsv6313688copy number variation1nstd102humanPathogenic GRCh37 chr1: 33,285,582-47,891,811 , GRCh38.p12 chr1: 32,819,981-47,426,139 LOC107984940, PPIAP36, 407 more genes
    nsv6313549copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 38,679,545-42,556,292 , GRCh38.p12 chr1: 38,213,873-42,090,621 BMP8B, COL9A2, 93 more genes
    nsv6295881copy number variation1nstd186human GRCh37 chr1: 39,979,507-39,986,672 , GRCh38.p12 chr1: 39,513,835-39,521,000 OXCT2P1, BMP8A, 1 more genes
    nsv6252419mobile element insertion1nstd215human GRCh38 chr1: 39,495,116-39,495,116 , GRCh37.p13 chr1: 39,960,788-39,960,788 BMP8A
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