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Items: 1 to 20 of 416

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148074copy number variation1nstd102humanPathogenic GRCh37 chr21: 45,706,314-45,708,048 , GRCh38 chr21: 44,286,431-44,288,165 AIRE
    nsv7148063copy number variation1nstd102humanPathogenic GRCh38 chr21: 44,286,025-44,286,120 , GRCh37 chr21: 45,705,908-45,706,003 AIRE
    nsv7096283copy number variation1nstd102humanPathogenic GRCh37 chr21: 45,709,640-45,714,378 , GRCh38.p12 chr21: 44,289,757-44,294,495 AIRE
    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
    nsv7096098copy number variation1nstd102humanPathogenic GRCh37 chr21: 45,705,880-45,711,103 , GRCh38.p12 chr21: 44,285,997-44,291,220 AIRE
    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
    nsv7095811copy number variation1nstd102humanUncertain significance GRCh37 chr21: 45,655,135-45,717,610 , GRCh38.p12 chr21: 44,235,252-44,297,727 ICOSLG, DNMT3L-AS1, 2 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
    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
    nsv7034350copy number variation1nstd229human GRCh38 chr21: 44,295,838-44,295,877 , GRCh37.p13 chr21: 45,715,721-45,715,760 AIRE
    nsv7032292copy number variation1nstd229human GRCh38 chr21: 44,284,801-44,302,900 , GRCh37.p13 chr21: 45,704,684-45,722,783 PFKL, AIRE
    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
    nsv7029953copy number variation1nstd229human GRCh38 chr21: 44,289,757-44,294,497 , GRCh37.p13 chr21: 45,709,640-45,714,380 AIRE
    nsv7027957copy number variation1nstd229human GRCh38 chr21: 44,283,364-44,284,112 , GRCh37.p13 chr21: 45,703,247-45,703,995 AIRE
    nsv7026877copy number variation1nstd229human GRCh38 chr21: 44,272,781-44,319,637 , GRCh37.p13 chr21: 45,692,664-45,739,520 AIRE, PFKL
    nsv7018284copy number variation1nstd229human GRCh38 chr21: 44,285,835-44,316,293 , GRCh37.p13 chr21: 45,705,718-45,736,176 AIRE, PFKL
    nsv6637805copy number variation1nstd102humanUncertain significance GRCh37 chr21: 45,460,343-45,817,256 , GRCh38.p12 chr21: 44,040,462-44,397,373 DNMT3L, LOC105377139, 12 more genes
    nsv6627020copy number variation1nstd224human GRCh37 chr21: 45,665,330-45,716,269 , GRCh38.p12 chr21: 44,245,447-44,296,386 AIRE, DNMT3L, 1 more genes
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