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Items: 1 to 20 of 152

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5871489copy number variation1nstd209human GRCh38 chr1: 59,131,751-59,132,016 , GRCh37.p13 chr1: 59,597,423-59,597,688 HSD52
    nsv5830269copy number variation1nstd209human GRCh38 chr1: 59,145,502-59,153,692 , GRCh37.p13 chr1: 59,611,174-59,619,364 HSD52
    nsv5418390copy number variation1nstd206human GRCh38 chr1: 59,131,753-59,132,017 , GRCh37.p13 chr1: 59,597,425-59,597,689 HSD52
    nsv5335165translocation1nstd200human GRCh37 chr1: 59,597,689-59,597,689 , GRCh37 chr1: 59,597,425-59,597,425 , GRCh38.p12 chr1: 59,131,753-59,131,753 , GRCh38.p12 chr1: 59,132,017-59,132,017 HSD52
    nsv4903551copy number variation1nstd200human GRCh38 chr1: 59,145,359-59,153,533 , GRCh37.p13 chr1: 59,611,031-59,619,205 HSD52
    nsv4903550copy number variation1nstd200human GRCh38 chr1: 59,116,721-59,168,020 , GRCh37.p13 chr1: 59,582,393-59,633,692 HSD52
    nsv4890389copy number variation1nstd200human GRCh38 chr1: 59,130,913-59,131,098 , GRCh37.p13 chr1: 59,596,585-59,596,770 HSD52
    nsv4888344inversion1nstd200human GRCh37 chr1: 51,769,169-94,478,994 , GRCh38.p12 chr1: 51,303,497-94,013,438 , ST13P20, 664 more genes
    nsv4780886copy number variation1nstd200human GRCh37 chr1: 59,611,031-59,619,202 , GRCh38.p12 chr1: 59,145,359-59,153,530 HSD52
    nsv4768338copy number variation1nstd102humanPathogenic GRCh37 chr1: 53,675,707-66,644,963 , GRCh38.p12 chr1: 53,210,035-66,179,280 TALDO1P1, LAMTOR5P1, 201 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4736825copy number variation1nstd199human GRCh37 chr1: 59,597,425-59,597,691 , GRCh38.p12 chr1: 59,131,753-59,132,019 HSD52
    nsv4684195copy number variation1nstd102humanUncertain significance GRCh37 chr1: 58,346,207-59,924,256 , GRCh38.p12 chr1: 57,880,535-59,458,584 RPS26P15, FGGY, 21 more genes
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 LINC01776, IGSF21-AS1, 1853 more genes
    nsv4391012copy number variation1nstd171human GRCh37 chr1: 59,597,424-59,597,689 , GRCh38.p12 chr1: 59,131,752-59,132,017 HSD52
    nsv4382131copy number variation2nstd173human GRCh37 chr1: 59,423,103-60,052,053 , GRCh38.p12 chr1: 58,957,431-59,586,381 LINC02777, FGGY-DT, 4 more genes
    nsv4373811copy number variation1nstd173human GRCh37 chr1: 59,610,174-59,933,408 , GRCh38.p12 chr1: 59,144,502-59,467,736 FGGY-DT, HSD52, 1 more genes
    nsv4369048copy number variation1nstd173human GRCh37 chr1: 59,609,704-59,933,336 , GRCh38.p12 chr1: 59,144,032-59,467,664 FGGY, HSD52, 1 more genes
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