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Items: 1 to 20 of 219

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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
    nsv7095955copy number variation1nstd102humanUncertain significance GRCh37 chr1: 200,522,516-206,945,780 , GRCh38.p12 chr1: 200,553,388-206,772,435 ELF3, MAPKAPK2, 189 more genes
    nsv7095569copy number variation2nstd102humanUncertain significance GRCh37 chr1: 200,522,516-208,391,267 , GRCh38.p12 chr1: 200,553,388-208,217,922 TRK-TTT8-1, ADIPOR1, 228 more genes
    nsv7057309inversion1nstd229human GRCh38 chr1: 200,648,151-200,816,247 , GRCh37.p13 chr1: 200,617,279-200,785,375 CAMSAP2, DDX59, 1 more genes
    nsv7055522inversion1nstd229human GRCh38 chr1: 200,567,541-200,690,359 , GRCh37.p13 chr1: 200,536,669-200,659,487 KIF14, DDX59, 1 more genes
    nsv6677505copy number variation1nstd229human GRCh38 chr1: 200,654,258-200,657,552 , GRCh37.p13 chr1: 200,623,386-200,626,680 DDX59
    nsv6677232copy number variation1nstd229human GRCh38 chr1: 200,654,605-200,654,880 , GRCh37.p13 chr1: 200,623,733-200,624,008 DDX59
    nsv6672612copy number variation1nstd229human GRCh38 chr1: 200,655,876-200,688,163 , GRCh37.p13 chr1: 200,625,004-200,657,291 DDX59-AS1, DDX59
    nsv6669436copy number variation1nstd229human GRCh38 chr1: 200,480,586-200,711,630 , GRCh37.p13 chr1: 200,449,714-200,680,758 KIF14, DDX59, 2 more genes
    nsv6664233copy number variation1nstd229human GRCh38 chr1: 200,592,313-200,709,632 , GRCh37.p13 chr1: 200,561,441-200,678,760 DDX59-AS1, KIF14, 1 more genes
    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
    nsv6634372copy number variation1nstd102humanPathogenic GRCh37 chr1: 197,867,914-249,224,684 , GRCh38.p12 chr1: 197,898,784-248,930,485 LOC105373279, YBX1P9, 1036 more genes
    nsv6545275inversion1nstd223human GRCh38 chr1: 200,664,963-200,665,211 , GRCh37.p13 chr1: 200,634,091-200,634,339 DDX59
    nsv6543231inversion1nstd223human GRCh38 chr1: 200,644,896-200,645,287 , GRCh37.p13 chr1: 200,614,024-200,614,415 DDX59
    nsv6535872inversion1nstd223human GRCh38 chr1: 200,655,881-200,656,968 , GRCh37.p13 chr1: 200,625,009-200,626,096 DDX59
    nsv6535725inversion1nstd223human GRCh38 chr1: 200,651,984-200,652,686 , GRCh37.p13 chr1: 200,621,112-200,621,814 DDX59
    nsv6318491copy number variation1nstd223human GRCh38 chr1: 200,654,234-200,657,595 , GRCh37.p13 chr1: 200,623,362-200,626,723 DDX59
    nsv6133964copy number variation1nstd213human GRCh37 chr1: 200,270,000-200,790,001 , GRCh38.p12 chr1: 200,300,872-200,820,873 KIF14, CAMSAP2, 5 more genes
    nsv6133960copy number variation1nstd213human GRCh37 chr1: 196,820,000-204,810,001 , GRCh38.p12 chr1: 196,850,870-204,840,873 ELF3, NR5A2, 181 more genes
    nsv6133950copy number variation1nstd213human GRCh37 chr1: 178,070,000-205,920,001 , GRCh38.p12 chr1: 178,100,865-205,950,873 ADORA1, CACNA1E, 442 more genes
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