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Items: 1 to 20 of 130

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099297copy number variation1nstd231human GRCh38.p12 chr1: 58,444,770-67,143,664 , GRCh37 chr1: 58,910,442-67,609,347 AK4, CYP2J2, 125 more genes
    nsv7099208copy number variation1nstd231human GRCh38.p12 chr1: 59,526,542-66,009,490 , GRCh37 chr1: 59,992,214-66,475,173 AK4, CYP2J2, 96 more genes
    nsv7054157inversion1nstd229human GRCh38 chr1: 59,298,002-59,801,995 , GRCh37.p13 chr1: 59,763,674-60,267,667 MIR4711, FGGY, 1 more genes
    nsv6652805copy number variation1nstd229human GRCh38 chr1: 59,788,343-59,788,536 , GRCh37.p13 chr1: 60,254,015-60,254,208 LOC101926944
    nsv6652479copy number variation1nstd229human GRCh38 chr1: 59,671,418-60,836,236 , GRCh37.p13 chr1: 60,137,090-61,301,908 RN7SL475P, HOOK1, 14 more genes
    nsv6626384copy number variation1nstd224human GRCh37 chr1: 60,090,059-60,547,426 , GRCh38.p12 chr1: 59,624,387-60,081,754 CYP2J2, HOOK1, 6 more genes
    nsv6324335copy number variation1nstd223human GRCh38 chr1: 59,768,501-59,771,200 , GRCh37.p13 chr1: 60,234,173-60,236,872 LOC101926944
    nsv6322684copy number variation1nstd223human GRCh38 chr1: 59,784,001-59,784,800 , GRCh37.p13 chr1: 60,249,673-60,250,472 LOC101926944
    nsv6134001copy number variation1nstd213human GRCh37 chr1: 60,010,000-60,310,001 , GRCh38.p12 chr1: 59,544,328-59,844,329 HOOK1, FGGY, 3 more genes
    nsv4890416copy number variation1nstd200human GRCh38 chr1: 59,780,720-59,780,796 , GRCh37.p13 chr1: 60,246,392-60,246,468 LOC101926944
    nsv4888344inversion1nstd200human GRCh37 chr1: 51,769,169-94,478,994 , GRCh38.p12 chr1: 51,303,497-94,013,438 , ST13P20, 664 more genes
    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
    nsv4461850mobile element insertion1nstd166human GRCh37.p13 chr1: 60,253,482-60,253,482 , GRCh38.p12 chr1: 59,787,810-59,787,810 LOC101926944
    nsv4453663copy number variation1nstd102humanPathogenic GRCh37 chr1: 59,922,631-72,058,653 , GRCh38.p12 chr1: 59,456,959-71,592,970 RNU6-387P, MIR3671, 170 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
    nsv4326932inversion1nstd166human GRCh37.p13 chr1: 35,173,490-93,458,530 , GRCh38.p12 chr1: 34,707,889-92,992,973 , ATP6V0B, 1069 more genes
    nsv3909388copy number variation1nstd102humanPathogenic GRCh37 chr1: 57,816,246-71,791,607 , GRCh38 chr1: 57,350,574-71,325,924 , NCBI36 chr1: 57,588,834-71,564,195 RNU6-1031P, LOC107984963, 193 more genes
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