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Items: 1 to 20 of 205

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099255copy number variation1nstd231human GRCh38.p12 chr1: 192,358,641-201,911,882 , GRCh37 chr1: 192,327,771-201,881,010 CACNA1S, CSRP1, 120 more genes
    nsv7057871inversion1nstd229human GRCh38 chr1: 191,728,426-196,575,913 , GRCh37.p13 chr1: 191,697,556-196,545,043 GLRX2, LOC107985241, 37 more genes
    nsv7044147inversion1nstd229human GRCh38 chr1: 190,518,287-195,020,156 , GRCh37.p13 chr1: 190,487,417-194,989,286 LOC105371668, B3GALT2, 34 more genes
    nsv6673597copy number variation1nstd229human GRCh38 chr1: 192,803,180-193,399,191 , GRCh37.p13 chr1: 192,772,310-193,368,321 RO60, MIR1278, 12 more genes
    nsv6672956copy number variation1nstd229human GRCh38 chr1: 193,058,501-193,060,100 , GRCh37.p13 chr1: 193,027,631-193,029,230 RO60, UCHL5
    nsv6669734copy number variation1nstd229human GRCh38 chr1: 193,066,801-193,118,000 , GRCh37.p13 chr1: 193,035,931-193,087,130 RO60, GLRX2
    nsv6667933copy number variation1nstd229human GRCh38 chr1: 193,070,090-193,197,585 , GRCh37.p13 chr1: 193,039,220-193,166,715 CDC73, GLRX2, 3 more genes
    nsv6664098copy number variation1nstd229human GRCh38 chr1: 189,813,413-194,218,341 , GRCh37.p13 chr1: 189,782,543-194,187,471 RO60, MIR4426, 38 more genes
    nsv6659254copy number variation1nstd229human GRCh38 chr1: 193,026,761-193,173,580 , GRCh37.p13 chr1: 192,995,891-193,142,710 UCHL5, GLRX2, 4 more genes
    nsv6658748copy number variation1nstd229human GRCh38 chr1: 193,066,901-193,080,400 , GRCh37.p13 chr1: 193,036,031-193,049,530 RO60
    nsv6658527copy number variation1nstd229human GRCh38 chr1: 193,080,237-193,112,126 , GRCh37.p13 chr1: 193,049,367-193,081,256 GLRX2, RO60
    nsv6636965copy number variation1nstd102humanPathogenic GRCh37 chr1: 181,453,460-213,107,248 , GRCh38.p12 chr1: 181,484,324-212,933,906 PRELP, SYT14, 527 more genes
    nsv6636659copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 189,633,885-199,854,163 , GRCh38.p12 chr1: 189,664,755-199,885,035 F13B, CFH, 88 more genes
    nsv6636303copy number variation1nstd102humanPathogenic GRCh37 chr1: 193,011,753-199,882,947 , GRCh38.p12 chr1: 193,042,623-199,913,819 RPS2P9, ASPM, 60 more genes
    nsv6545777inversion1nstd223human GRCh38 chr1: 193,079,401-193,079,538 , GRCh37.p13 chr1: 193,048,531-193,048,668 RO60
    nsv6540558inversion1nstd223human GRCh38 chr1: 192,830,119-193,074,178 , GRCh37.p13 chr1: 192,799,249-193,043,308 RO60, UCHL5, 6 more genes
    nsv6332313copy number variation1nstd223human GRCh38 chr1: 193,085,970-193,086,395 , GRCh37.p13 chr1: 193,055,100-193,055,525 RO60
    nsv6319783copy number variation1nstd223human GRCh38 chr1: 193,081,701-193,082,500 , GRCh37.p13 chr1: 193,050,831-193,051,630 RO60
    nsv6318288copy number variation1nstd223human GRCh38 chr1: 193,077,134-193,077,584 , GRCh37.p13 chr1: 193,046,264-193,046,714 RO60
    nsv6315765copy number variation1nstd223human GRCh38 chr1: 193,085,001-193,086,100 , GRCh37.p13 chr1: 193,054,131-193,055,230 RO60
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