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Items: 1 to 20 of 215

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5963130insertion1nstd209human GRCh38 chr1: 56,929,084-56,929,084 , GRCh37.p13 chr1: 57,394,757-57,394,757 C8B
    nsv5871360copy number variation1nstd209human GRCh38 chr1: 56,942,964-56,951,536 , GRCh37.p13 chr1: 57,408,637-57,417,209 C8B
    nsv5721364mobile element insertion1nstd211human GRCh38 chr1: 56,959,290-56,959,290 , GRCh37.p13 chr1: 57,424,963-57,424,963 C8B
    nsv5673327copy number variation1nstd102humanPathogenic GRCh37 chr1: 57,417,701-57,417,873 , GRCh38.p12 chr1: 56,952,028-56,952,200 C8B
    nsv5621543insertion1nstd207human GRCh38 chr1: 56,929,081-56,929,081 , GRCh37.p13 chr1: 57,394,754-57,394,754 C8B
    nsv5547381insertion1nstd206human GRCh38 chr1: 56,929,083-56,929,098 , GRCh37.p13 chr1: 57,394,756-57,394,771 C8B
    nsv5420840copy number variation1nstd206human GRCh38 chr1: 56,950,692-56,950,742 , GRCh37.p13 chr1: 57,416,365-57,416,415 C8B
    nsv5212942copy number variation1nstd204human GRCh38.p13 chr1: 56,953,628-56,954,727 , GRCh37.p13 chr1: 57,419,301-57,420,400 C8B
    nsv4890334copy number variation1nstd200human GRCh38 chr1: 56,951,167-56,952,768 , GRCh37.p13 chr1: 57,416,840-57,418,441 C8B
    nsv4888344inversion1nstd200human GRCh37 chr1: 51,769,169-94,478,994 , GRCh38.p12 chr1: 51,303,497-94,013,438 , ST13P20, 664 more genes
    nsv4783352copy number variation1nstd200human GRCh37 chr1: 57,408,637-57,417,210 , GRCh38.p12 chr1: 56,942,964-56,951,537 C8B
    nsv4768466insertion1nstd186human GRCh37 chr1: 57,394,754-57,394,754 , GRCh38.p12 chr1: 56,929,081-56,929,081 C8B
    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
    nsv4751359insertion1nstd199human GRCh37 chr1: 57,394,750-57,394,750 , GRCh38.p12 chr1: 56,929,077-56,929,077 C8B
    nsv4685432insertion1nstd194human GRCh37 chr1: 57,394,754-57,394,754 , GRCh38.p12 chr1: 56,929,081-56,929,081 C8B
    nsv4674049copy number variation1nstd102humanUncertain significance GRCh37 chr1: 56,844,621-58,438,748 , GRCh38.p12 chr1: 56,378,949-57,973,076 LOC105378746, PRKAA2, 14 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
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