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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
    nsv7053109inversion1nstd229human GRCh38 chr1: 58,565,729-58,575,961 , GRCh37.p13 chr1: 59,031,401-59,041,633 RN7SL713P, TACSTD2
    nsv6652445copy number variation1nstd229human GRCh38 chr1: 58,463,715-59,072,395 , GRCh37.p13 chr1: 58,929,387-59,538,067 LOC112268263, LOC101926907, 12 more genes
    nsv6652331copy number variation1nstd229human GRCh38 chr1: 58,400,304-58,585,876 , GRCh37.p13 chr1: 58,865,976-59,051,548 RN7SL713P, TACSTD2, 2 more genes
    nsv6651772copy number variation1nstd229human GRCh38 chr1: 58,565,400-58,574,704 , GRCh37.p13 chr1: 59,031,072-59,040,376 RN7SL713P, TACSTD2
    nsv6317998copy number variation1nstd223human GRCh38 chr1: 58,463,715-59,072,395 , GRCh37.p13 chr1: 58,929,387-59,538,067 AK2P1, LOC107984961, 12 more genes
    nsv6134000copy number variation1nstd213human GRCh37 chr1: 58,660,000-59,490,001 , GRCh38.p12 chr1: 58,194,328-59,024,329 DAB1, JUN, 15 more genes
    nsv5420548copy number variation1nstd206human GRCh38 chr1: 58,573,509-58,574,480 , GRCh37.p13 chr1: 59,039,181-59,040,152 TACSTD2
    nsv4888344inversion1nstd200human GRCh37 chr1: 51,769,169-94,478,994 , GRCh38.p12 chr1: 51,303,497-94,013,438 , ST13P20, 664 more genes
    nsv4780885copy number variation1nstd200human GRCh37 chr1: 58,843,253-59,180,696 , GRCh38.p12 chr1: 58,377,581-58,715,024 OMA1, AK2P1, 5 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
    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
    nsv4326932inversion1nstd166human GRCh37.p13 chr1: 35,173,490-93,458,530 , GRCh38.p12 chr1: 34,707,889-92,992,973 , ATP6V0B, 1069 more genes
    nsv4034130copy number variation1nstd166human GRCh37.p13 chr1: 58,843,325-59,180,564 , GRCh38.p12 chr1: 58,377,653-58,714,892 TACSTD2, MYSM1, 5 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
    nsv3899721copy number variation1nstd102humanLikely pathogenic NCBI36 chr1: 53,025,763-67,578,144 , GRCh37 chr1: 53,253,175-67,805,556 , GRCh38 chr1: 52,787,503-67,339,873 AK4, C8A, 230 more genes
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