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Items: 1 to 20 of 220

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6130884insertion1nstd186human GRCh37 chr21: 10,697,897-44,966,043 , GRCh38.p12 chr21: 12,965,809-43,546,162 , APP, 533 more genes
    nsv5954230copy number variation1nstd209human GRCh38 chr21: 31,658,035-31,658,084 , GRCh37.p13 chr21: 33,030,348-33,030,397 SOD1-DT, SOD1
    nsv5591197copy number variation1nstd207human GRCh38 chr21: 31,658,035-31,658,084 , GRCh37.p13 chr21: 33,030,348-33,030,397 SOD1, SOD1-DT
    nsv5539790insertion1nstd206human GRCh38 chr21: 5,227,438-39,583,816 , GRCh37.p13 chr21: 10,697,897-44,966,043 , LOC100419041, 557 more genes
    nsv5381310copy number variation1nstd102humanUncertain significance GRCh37 chr21: 32,439,271-37,133,458 , GRCh38.p12 chr21: 31,066,952-35,761,160 LINC00945, CFAP298-TCP10L, 83 more genes
    nsv5323906inversion1nstd204human GRCh37.p13 chr21: 30,417,326-35,280,637 , GRCh38.p13 chr21: 29,045,005-33,908,333 , ATP5PO, 129 more genes
    nsv5029350copy number variation1nstd200human GRCh38 chr21: 31,664,226-31,664,893 , GRCh37.p13 chr21: 33,036,539-33,037,206 SOD1
    nsv5023517copy number variation1nstd200human GRCh38 chr21: 31,653,487-31,658,822 , GRCh37.p13 chr21: 33,025,800-33,031,135 SOD1, SOD1-DT
    nsv4863100copy number variation1nstd200human GRCh37 chr21: 33,025,800-33,031,135 , GRCh38.p12 chr21: 31,653,487-31,658,822 SOD1-DT, SOD1
    nsv4730021copy number variation1nstd102humanPathogenic GRCh37 chr21: 14,629,063-48,090,317 , GRCh38.p12 chr21: 13,256,742-46,670,405 SLX9, LOC105372750, 619 more genes
    nsv4679058copy number variation1nstd189human GRCh37.p13 chr21: 14,468,835-48,129,895 , GRCh38.p12 chr21: 13,096,514-46,699,983 , ADARB1, 652 more genes
    nsv4676196copy number variation1nstd102humanPathogenic GRCh37 chr21: 31,711,916-34,632,473 , GRCh38.p12 chr21: 30,339,598-33,260,168 OLIG2, LOC105372787, 83 more genes
    nsv4647650copy number variation1nstd186human GRCh37 chr21: 33,030,349-33,030,398 , GRCh38.p12 chr21: 31,658,036-31,658,085 SOD1-DT, SOD1
    nsv4619101copy number variation1nstd183human GRCh37 chr21: 32,746,995-33,554,583 , GRCh38.p12 chr21: 31,374,681-32,182,271 FBXW11P1, TIAM1-AS1, 11 more genes
    nsv4419243copy number variation1nstd174human GRCh37 chr21: 32,372,727-33,553,155 , GRCh38.p12 chr21: 31,000,408-32,180,843 , TIAM1, 18 more genes
    nsv4392682copy number variation1nstd171human GRCh37 chr21: 33,030,349-33,030,398 , GRCh38.p12 chr21: 31,658,036-31,658,085 SOD1, SOD1-DT
    nsv4385813copy number variation1nstd173human GRCh37 chr21: 15,006,458-48,097,384 , GRCh38.p12 chr21: 13,634,137-46,677,472 , GET1, 639 more genes
    nsv4382575copy number variation2nstd173human GRCh37 chr21: 15,006,458-48,097,372 , GRCh38.p12 chr21: 13,634,137-46,677,460 , CBR3-AS1, 639 more genes
    nsv4378831copy number variation1nstd173human GRCh37 chr21: 15,006,458-48,097,384 , GRCh38.p12 chr21: 13,634,137-46,677,472 , LOC105369299, 639 more genes
    nsv4369498copy number variation1nstd173human GRCh37 chr21: 15,547,727-45,685,800 , GRCh38.p12 chr21: 14,175,406-44,265,917 , LINC00114, 520 more genes
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