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Items: 1 to 20 of 511

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7146111copy number variation1nstd232human GRCh37.p13 chr21: 45,745,942-45,746,039 , GRCh38.p12 chr21: 44,326,059-44,326,156 PFKL
    nsv7144600insertion1nstd232human GRCh37.p13 chr21: 45,725,989-45,725,989 , GRCh38.p12 chr21: 44,306,106-44,306,106 PFKL
    nsv7141759insertion1nstd232human GRCh37.p13 chr21: 45,743,801-45,743,801 , GRCh38.p12 chr21: 44,323,918-44,323,918 PFKL
    nsv7138070copy number variation1nstd232human GRCh37.p13 chr21: 45,736,222-45,736,313 , GRCh38.p12 chr21: 44,316,339-44,316,430 PFKL
    nsv7096282copy number variation1nstd102humanUncertain significance GRCh37 chr21: 45,709,520-45,759,077 , GRCh38.p12 chr21: 44,289,637-44,339,194 PFKL, CFAP410, 1 more genes
    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
    nsv7076046inversion1nstd229human GRCh38 chr21: 42,633,367-44,550,173 , GRCh37.p13 chr21: 44,053,477-45,916,560 MYL6P1, MIR5692B, 68 more genes
    nsv7072042inversion1nstd229human GRCh38 chr21: 44,302,380-44,310,389 , GRCh37.p13 chr21: 45,722,263-45,730,272 PFKL
    nsv7067320inversion1nstd229human GRCh38 chr21: 44,296,932-44,310,100 , GRCh37.p13 chr21: 45,716,815-45,729,983 PFKL, AIRE
    nsv7064889inversion1nstd229human GRCh38 chr21: 41,632,756-44,900,321 , GRCh37.p13 chr21: 43,052,916-46,320,236 RNU6-1150P, LOC105372824, 123 more genes
    nsv7063620inversion1nstd229human GRCh38 chr21: 44,093,060-44,366,964 , GRCh37.p13 chr21: 45,512,941-45,786,847 LOC105377139, DNMT3L, 11 more genes
    nsv7035454copy number variation1nstd229human GRCh38 chr21: 44,306,101-44,353,300 , GRCh37.p13 chr21: 45,725,984-45,773,183 PFKL, TRPM2, 1 more genes
    nsv7034767copy number variation1nstd229human GRCh38 chr21: 44,317,350-44,334,797 , GRCh37.p13 chr21: 45,737,233-45,754,680 CFAP410, PFKL
    nsv7032565copy number variation1nstd229human GRCh38 chr21: 44,306,059-44,306,111 , GRCh37.p13 chr21: 45,725,942-45,725,994 PFKL
    nsv7032292copy number variation1nstd229human GRCh38 chr21: 44,284,801-44,302,900 , GRCh37.p13 chr21: 45,704,684-45,722,783 PFKL, AIRE
    nsv7031534copy number variation1nstd229human GRCh38 chr21: 44,303,352-44,310,661 , GRCh37.p13 chr21: 45,723,235-45,730,544 PFKL
    nsv7030626copy number variation1nstd229human GRCh38 chr21: 44,293,426-44,549,165 , GRCh37.p13 chr21: 45,713,309-45,916,560 CFAP410, TRPM2-AS, 14 more genes
    nsv7026877copy number variation1nstd229human GRCh38 chr21: 44,272,781-44,319,637 , GRCh37.p13 chr21: 45,692,664-45,739,520 AIRE, PFKL
    nsv7024612copy number variation1nstd229human GRCh38 chr21: 44,323,841-44,447,781 , GRCh37.p13 chr21: 45,743,724-45,867,664 TRPM2-AS, CFAP410, 2 more genes
    nsv7021703copy number variation1nstd229human GRCh38 chr21: 44,305,985-44,319,516 , GRCh37.p13 chr21: 45,725,868-45,739,399 PFKL
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