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Items: 1 to 20 of 134

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099261copy number variation1nstd231human GRCh38.p12 chr1: 211,283,087-211,705,792 , GRCh37 chr1: 211,456,429-211,879,134 NEK2, TRAF5, 13 more genes
    nsv7040987inversion1nstd229human GRCh38 chr1: 210,564,176-212,658,793 , GRCh37.p13 chr1: 210,737,520-212,832,135 LPGAT1, RFKP5, 44 more genes
    nsv6674653copy number variation1nstd229human GRCh38 chr1: 211,363,861-211,439,875 , GRCh37.p13 chr1: 211,537,203-211,613,217 LINC00467, LOC107985259, 2 more genes
    nsv6663043copy number variation1nstd229human GRCh38 chr1: 211,397,621-211,558,871 , GRCh37.p13 chr1: 211,570,963-211,732,213 LOC107985261, RD3, 4 more genes
    nsv6638068copy number variation1nstd102humanassociation GRCh38 chr1: 208,430,918-228,938,006 , GRCh37.p13 chr1: 208,604,263-229,073,753 AURKAP1, TLR5, 372 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
    nsv6636535copy number variation1nstd102humanUncertain significance GRCh37 chr1: 211,538,672-211,617,196 , GRCh38.p12 chr1: 211,365,330-211,443,854 LOC107985259, LINC00467, 3 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
    nsv6329913copy number variation1nstd223human GRCh38 chr1: 211,416,201-211,417,100 , GRCh37.p13 chr1: 211,589,543-211,590,442 LINC00467, SNX25P1
    nsv6329346copy number variation1nstd223human GRCh38 chr1: 211,413,224-211,416,748 , GRCh37.p13 chr1: 211,586,566-211,590,090 LINC00467, SNX25P1
    nsv6328343copy number variation1nstd223human GRCh38 chr1: 211,412,901-211,421,300 , GRCh37.p13 chr1: 211,586,243-211,594,642 SNX25P1, LINC00467
    nsv6325553copy number variation1nstd223human GRCh38 chr1: 209,453,567-212,914,449 , GRCh37.p13 chr1: 209,626,912-213,087,791 ST13P19, RPS5P4, 74 more genes
    nsv6133753copy number variation1nstd213human GRCh37 chr1: 210,410,000-214,880,001 , GRCh38.p12 chr1: 210,236,655-214,706,658 NEK2, PPP2R5A, 73 more genes
    nsv6133631copy number variation1nstd213human GRCh37 chr1: 211,490,000-211,730,001 , GRCh38.p12 chr1: 211,316,658-211,556,659 TRAF5, RCOR3, 7 more genes
    nsv6133630copy number variation2nstd213human GRCh37 chr1: 206,490,000-223,720,001 , GRCh38.p12 chr1: 206,316,655-223,546,636 ATP5MC2P1, CENPF, 269 more genes
    nsv5559367inversion1nstd206human GRCh38 chr1: 211,404,486-211,457,317 , GRCh37.p13 chr1: 211,577,828-211,630,659 LINC00467, ARPC3P2, 1 more genes
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4684187copy number variation1nstd102humanPathogenic GRCh37 chr1: 210,152,794-249,218,992 , GRCh38.p12 chr1: 209,979,449-248,924,793 HLX-AS1, OPN3, 740 more genes
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