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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099197copy number variation1nstd231human GRCh38.p12 chr1: 43,487,884-44,020,389 , GRCh37 chr1: 43,953,555-44,486,061 ATP6V0B, DPH2, 14 more genes
    nsv7095531copy number variation1nstd102humanUncertain significance GRCh37 chr1: 44,257,753-46,663,493 , GRCh38.p12 chr1: 43,792,082-46,197,821 AKR1A1, OSTCP5, 87 more genes
    nsv7054826inversion1nstd229human GRCh38 chr1: 43,915,848-44,729,930 , GRCh37.p13 chr1: 44,381,520-45,195,602 RNU5F-1, KLF18, 31 more genes
    nsv6649720copy number variation1nstd229human GRCh38 chr1: 43,926,883-43,963,189 , GRCh37.p13 chr1: 44,392,555-44,428,861 ARTN, LINC02918, 3 more genes
    nsv6649713copy number variation1nstd229human GRCh38 chr1: 43,761,610-43,950,117 , GRCh37.p13 chr1: 44,227,281-44,415,789 ARTN, IPO13, 5 more genes
    nsv6636253copy number variation1nstd102humanUncertain significance GRCh37 chr1: 44,115,963-44,434,808 , GRCh38.p12 chr1: 43,650,292-43,969,136 KDM4A, DPH2, 9 more genes
    nsv6318840copy number variation1nstd223human GRCh38 chr1: 43,926,883-43,963,188 , GRCh37.p13 chr1: 44,392,555-44,428,860 LOC101929609, ARTN, 3 more genes
    nsv6314936copy number variation1nstd102humanUncertain significance GRCh37 chr1: 44,346,001-46,332,161 , GRCh38.p12 chr1: 43,880,329-45,866,489 ZSWIM5, OSTCP5, 79 more genes
    nsv6313688copy number variation1nstd102humanPathogenic GRCh37 chr1: 33,285,582-47,891,811 , GRCh38.p12 chr1: 32,819,981-47,426,139 LOC107984940, PPIAP36, 407 more genes
    nsv6310811copy number variation2nstd102humanUncertain significance, Likely pathogenic GRCh37 chr1: 44,360,035-44,482,805 , GRCh38.p12 chr1: 43,894,363-44,017,133 ATP6V0B, DPH2, 8 more genes
    nsv6133871copy number variation1nstd213human GRCh37 chr1: 44,070,000-46,570,001 , GRCh38.p12 chr1: 43,604,329-46,104,329 ATP6V0B, PLK3, 87 more genes
    nsv5615147insertion1nstd207human GRCh38 chr1: 43,937,047-43,937,047 , GRCh37.p13 chr1: 44,402,719-44,402,719 ARTN, LINC02918
    nsv5334620translocation1nstd200human GRCh37 chr1: 44,399,918-44,399,918 , GRCh37 chr1: 44,399,849-44,399,849 , GRCh38.p12 chr1: 43,934,177-43,934,177 , GRCh38.p12 chr1: 43,934,246-43,934,246 ARTN
    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
    nsv4451506copy number variation1nstd102humanPathogenic GRCh37 chr1: 43,336,799-44,713,202 , GRCh38.p12 chr1: 42,871,128-44,247,530 CCDC24, KRT8P47, 54 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
    nsv4048494copy number variation1nstd166human GRCh37.p13 chr1: 44,227,281-44,415,832 , GRCh38.p12 chr1: 43,761,610-43,950,160 SHMT1P1, ST3GAL3, 5 more genes
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