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Items: 1 to 20 of 313

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096096copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr21: 43,160,998-47,754,702 , GRCh38.p12 chr21: 41,740,838-46,334,788 TSPEAR, LINC01424, 158 more genes
    nsv7077414inversion1nstd229human GRCh38 chr21: 44,750,437-44,808,832 , GRCh37.p13 chr21|NW_004775435.1: 253,758-307,252 , GRCh37.p13 chr21: 46,170,352-46,223,846 LINC01424, UBE2G2, 1 more genes
    nsv7075761inversion1nstd229human GRCh38 chr21: 44,786,406-44,895,697 , GRCh37.p13 chr21: 46,223,847-46,315,612 ITGB2, PTTG1IP, 3 more genes
    nsv7073104inversion1nstd229human GRCh38 chr21: 44,517,558-44,872,699 , GRCh37.p13 chr21|NW_004775435.1: 20,881-307,252 , GRCh37.p13 chr21: 45,937,441-46,223,846 KRTAP10-12, UBE2G2, 23 more genes
    nsv7064889inversion1nstd229human GRCh38 chr21: 41,632,756-44,900,321 , GRCh37.p13 chr21: 43,052,916-46,320,236 RNU6-1150P, LOC105372824, 123 more genes
    nsv7064241inversion1nstd229human GRCh38 chr21: 44,592,143-45,117,141 , GRCh37.p13 chr21: 46,223,847-46,537,056 KRTAP10-12, LINC01547, 27 more genes
    nsv7033362copy number variation1nstd229human GRCh38 chr21: 44,776,599-44,902,580 , GRCh37.p13 chr21: 46,223,847-46,322,495 PTTG1IP, LINC01424, 3 more genes
    nsv7022820copy number variation1nstd229human GRCh38 chr21: 44,750,477-44,895,696 , GRCh37.p13 chr21: 46,223,847-46,315,611 LINC01424, PTTG1IP, 3 more genes
    nsv7018478copy number variation1nstd229human GRCh38 chr21: 44,815,879-45,213,543 , GRCh37.p13 chr21: 46,235,794-46,633,458 PICSAR, ITGB2, 10 more genes
    nsv6634428copy number variation1nstd102humanPathogenic GRCh37 chr21: 45,808,650-47,529,568 , GRCh38.p12 chr21: 44,388,767-46,109,654 KRTAP12-5P, MTCYBP21, 64 more genes
    nsv6626624copy number variation1nstd224human GRCh37 chr21: 1-48,129,895 , GRCh38.p12 chr21: 8,522,361-46,699,983 , ATP5PO, 657 more genes
    nsv6599512inversion1nstd223human GRCh38 chr21: 43,690,612-45,780,509 , GRCh37.p13 chr21: 45,110,493-47,200,423 ADARB1, AIRE, 84 more genes
    nsv6599116inversion1nstd223human GRCh38 chr21: 43,689,244-45,912,414 , GRCh37.p13 chr21: 45,109,125-47,332,328 ADARB1, AIRE, 85 more genes
    nsv6551074copy number variation1nstd223human GRCh38 chr21: 44,809,416-44,810,031 , GRCh37.p13 chr21: 46,229,331-46,229,946 SUMO3
    nsv6547061copy number variation1nstd223human GRCh38 chr21: 44,804,531-44,805,050 , GRCh37.p13 chr21: 46,224,446-46,224,965 LINC01424, SUMO3
    nsv6539440copy number variation1nstd223human GRCh38 chr21: 44,816,301-44,820,300 , GRCh37.p13 chr21: 46,236,216-46,240,215 SUMO3
    nsv6315551copy number variation1nstd102humanPathogenic GRCh37 chr21: 14,420,615-48,080,926 , GRCh38.p12 chr21: 13,048,294-46,661,014 LTN1, LOC105372740, 622 more genes
    nsv6315496copy number variation1nstd102humanPathogenic GRCh37 chr21: 42,679,089-48,097,372 , GRCh38.p12 chr21: 41,307,162-46,677,460 TMEM97P1, LOC105372839, 177 more genes
    nsv6313951copy number variation1nstd102humanPathogenic GRCh37 chr21: 15,041,209-48,097,372 , GRCh38.p12 chr21: 13,668,888-46,677,460 LOC107985515, ATP5PF, 606 more genes
    nsv6311252copy number variation1nstd102humanUncertain significance GRCh37 chr21: 44,473,990-47,865,240 , GRCh38.p12 chr21: 43,053,880-46,445,327 FRGCA, KRTAP12-3, 121 more genes
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