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Items: 1 to 20 of 148

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099206copy number variation1nstd231human GRCh38.p12 chr1: 54,693,460-58,571,894 , GRCh37 chr1: 55,159,133-59,037,566 C8A, C8B, 49 more genes
    nsv7056705inversion1nstd229human GRCh38 chr1: 54,898,089-55,025,090 , GRCh37.p13 chr1: 55,363,762-55,490,763 TMEM61, TRK-CTT7-1, 2 more genes
    nsv7053230inversion1nstd229human GRCh38 chr1: 54,133,615-56,561,151 , GRCh37.p13 chr1: 54,599,288-57,026,824 GOT2P1, CIMAP2, 41 more genes
    nsv6651994copy number variation1nstd229human GRCh38 chr1: 54,976,640-54,985,361 , GRCh37.p13 chr1: 55,442,313-55,451,034 TMEM61, LOC105378736
    nsv6651884copy number variation1nstd229human GRCh38 chr1: 54,798,403-55,085,262 , GRCh37.p13 chr1: 55,264,076-55,550,935 PCSK9, TTC22, 8 more genes
    nsv6331758copy number variation1nstd223human GRCh38 chr1: 54,986,637-54,986,872 , GRCh37.p13 chr1: 55,452,310-55,452,545 TMEM61
    nsv6326723copy number variation1nstd223human GRCh38 chr1: 54,976,684-54,985,353 , GRCh37.p13 chr1: 55,442,357-55,451,026 TMEM61, LOC105378736
    nsv5881896copy number variation1nstd209human GRCh38 chr1: 54,986,637-54,986,871 , GRCh37.p13 chr1: 55,452,310-55,452,544 TMEM61
    nsv5830262copy number variation1nstd209human GRCh38 chr1: 54,976,448-54,981,403 , GRCh37.p13 chr1: 55,442,121-55,447,076 LOC105378736, TMEM61
    nsv5433224copy number variation1nstd206human GRCh38 chr1: 54,986,642-54,986,872 , GRCh37.p13 chr1: 55,452,315-55,452,545 TMEM61
    nsv5381135copy number variation1nstd102humanPathogenic GRCh37 chr1: 51,941,877-56,688,514 , GRCh38.p12 chr1: 51,476,205-56,222,842 LRP8-DT, LRRC42, 122 more genes
    nsv5351953translocation1nstd200human GRCh38 chr1: 54,986,872-54,986,872 , GRCh38 chr1: 54,986,642-54,986,642 , GRCh37.p13 chr1: 55,452,545-55,452,545 , GRCh37.p13 chr1: 55,452,315-55,452,315 TMEM61
    nsv5344617translocation1nstd200human GRCh37 chr1: 55,452,545-55,452,545 , GRCh37 chr1: 55,452,315-55,452,315 , GRCh38.p12 chr1: 54,986,642-54,986,642 , GRCh38.p12 chr1: 54,986,872-54,986,872 TMEM61
    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
    nsv4517806copy number variation1nstd166human GRCh37.p13 chr1: 55,452,315-55,452,545 , GRCh38.p12 chr1: 54,986,642-54,986,872 TMEM61
    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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