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Items: 1 to 20 of 1480

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148058copy number variation1nstd102humanUncertain significance GRCh38 chr21: 26,076,967-26,097,154 , GRCh37.p13 chr21: 27,449,283-27,469,471 APP
    nsv7146649insertion1nstd232human GRCh37.p13 chr21: 27,542,300-27,542,300 , GRCh38.p12 chr21: 26,169,982-26,169,982 APP
    nsv7143819insertion1nstd232human GRCh37.p13 chr21: 27,254,084-27,254,084 , GRCh38.p12 chr21: 25,881,773-25,881,773 APP
    nsv7141489insertion1nstd232human GRCh37.p13 chr21: 27,462,388-27,462,388 , GRCh38.p12 chr21: 26,090,072-26,090,072 APP
    nsv7139795insertion1nstd232human GRCh37.p13 chr21: 27,269,987-27,269,987 , GRCh38.p12 chr21: 25,897,675-25,897,675 APP
    nsv7138565insertion1nstd232human GRCh37.p13 chr21: 27,347,544-27,347,544 , GRCh38.p12 chr21: 25,975,231-25,975,231 APP
    nsv7096278copy number variation1nstd102humanPathogenic GRCh38.p12 chr21: 25,741,599-26,170,620 , GRCh37 chr21: 27,113,910-27,542,938 APP, GABPA, 4 more genes
    nsv7077330inversion1nstd229human GRCh38 chr21: 20,333,755-29,497,356 , GRCh37.p13 chr21: 21,706,067-30,869,676 LOC105372770, LOC100419737, 95 more genes
    nsv7077122inversion1nstd229human GRCh38 chr21: 26,055,379-26,103,059 , GRCh37.p13 chr21: 27,427,695-27,475,376 APP
    nsv7075671inversion1nstd229human GRCh38 chr21: 26,039,153-26,101,075 , GRCh37.p13 chr21: 27,411,468-27,473,392 APP
    nsv7072824inversion1nstd229human GRCh38 chr21: 26,050,672-26,050,742 , GRCh37.p13 chr21: 27,422,988-27,423,058 APP
    nsv7071358inversion1nstd229human GRCh38 chr21: 23,691,748-31,155,798 , GRCh37.p13 chr21: 25,064,065-32,528,116 LLPHP2, KRTAP20-3, 126 more genes
    nsv7066138inversion1nstd229human GRCh38 chr21: 22,253,885-27,921,241 , GRCh37.p13 chr21: 23,626,205-29,293,560 LOC107985516, D21S2088E, 57 more genes
    nsv7066097inversion1nstd229human GRCh38 chr21: 24,633,921-28,114,599 , GRCh37.p13 chr21: 26,006,235-29,486,918 ADAMTS5, MARCKSP1, 43 more genes
    nsv7065590inversion1nstd229human GRCh38 chr21: 23,756,613-30,931,318 , GRCh37.p13 chr21: 25,128,930-32,303,637 LINC01697, LOC105372753, 119 more genes
    nsv7038044copy number variation1nstd229human GRCh38 chr21: 26,063,103-26,430,763 , GRCh37.p13 chr21: 27,435,419-27,803,082 CYYR1-AS1, MARCKSP1, 3 more genes
    nsv7037889copy number variation1nstd229human GRCh38 chr21: 25,958,144-26,172,837 , GRCh37.p13 chr21: 27,330,458-27,545,155 APP
    nsv7037402copy number variation1nstd229human GRCh38 chr21: 26,168,244-26,168,993 , GRCh37.p13 chr21: 27,540,562-27,541,311 APP
    nsv7036520copy number variation1nstd229human GRCh38 chr21: 26,105,940-26,106,257 , GRCh37.p13 chr21: 27,478,257-27,478,574 APP
    nsv7036204copy number variation1nstd229human GRCh38 chr21: 25,963,704-25,964,314 , GRCh37.p13 chr21: 27,336,018-27,336,627 APP
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