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Items: 1 to 20 of 363

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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
    nsv6126827copy number variation1nstd186human GRCh37 chr21: 30,601,825-30,602,156 , GRCh38.p12 chr21: 29,229,504-29,229,835 LINC00189
    nsv5952791copy number variation1nstd209human GRCh38 chr21: 29,213,846-29,214,007 , GRCh37.p13 chr21: 30,586,167-30,586,328 LINC00189
    nsv5947876copy number variation1nstd209human GRCh38 chr21: 29,229,495-29,229,834 , GRCh37.p13 chr21: 30,601,816-30,602,155 LINC00189
    nsv5584858copy number variation1nstd207human GRCh38 chr21: 29,229,495-29,229,834 , GRCh37.p13 chr21: 30,601,816-30,602,155 LINC00189
    nsv5547726insertion1nstd206human GRCh38 chr21: 29,243,768-29,243,771 , GRCh37.p13 chr21: 30,616,089-30,616,092 LINC00189
    nsv5539790insertion1nstd206human GRCh38 chr21: 5,227,438-39,583,816 , GRCh37.p13 chr21: 10,697,897-44,966,043 , LOC100419041, 557 more genes
    nsv5536742copy number variation1nstd206human GRCh38 chr21: 29,229,504-29,229,835 , GRCh37.p13 chr21: 30,601,825-30,602,156 LINC00189
    nsv5382471mobile element deletion2nstd186human GRCh37 chr21: 30,601,825-30,602,156 , GRCh38.p12 chr21: 29,229,504-29,229,835 LINC00189
    nsv5360209translocation1nstd200human GRCh38 chr21: 29,250,356-29,250,356 , GRCh38 chr21: 29,250,429-29,250,429 , GRCh37.p13 chr21: 30,622,677-30,622,677 , GRCh37.p13 chr21: 30,622,750-30,622,750 LINC00189
    nsv5336423translocation1nstd200human GRCh37 chr21: 30,622,677-30,622,677 , GRCh37 chr21: 30,622,750-30,622,750 , GRCh38.p12 chr21: 29,250,429-29,250,429 , GRCh38.p12 chr21: 29,250,356-29,250,356 LINC00189
    nsv5323906inversion1nstd204human GRCh37.p13 chr21: 30,417,326-35,280,637 , GRCh38.p13 chr21: 29,045,005-33,908,333 , ATP5PO, 129 more genes
    nsv5296985copy number variation1nstd204human GRCh38.p13 chr21: 29,211,408-29,213,407 , GRCh37.p13 chr21: 30,583,729-30,585,728 LINC00189
    nsv5205956mobile element deletion1nstd204human GRCh38.p13 chr21: 29,229,504-29,229,835 , GRCh37.p13 chr21: 30,601,825-30,602,156 LINC00189
    nsv5185634mobile element insertion1nstd203human GRCh38 chr21: 29,191,653-29,191,653 , GRCh37.p13 chr21: 30,563,974-30,563,974 LINC00189
    nsv5182616mobile element insertion1nstd203human GRCh38 chr21: 29,282,518-29,282,532 , GRCh37.p13 chr21: 30,654,839-30,654,853 LINC00189
    nsv5181538mobile element insertion1nstd203human GRCh38 chr21: 29,204,188-29,204,202 , GRCh37.p13 chr21: 30,576,509-30,576,523 LINC00189
    nsv5178000mobile element insertion1nstd203human GRCh38 chr21: 29,222,195-29,222,204 , GRCh37.p13 chr21: 30,594,516-30,594,525 GAPDHP14, LINC00189
    nsv5023449copy number variation1nstd200human GRCh38 chr21: 29,252,111-29,254,846 , GRCh37.p13 chr21: 30,624,432-30,627,167 LINC00189
    nsv5023174copy number variation1nstd200human GRCh38 chr21: 22,907,052-31,032,550 , GRCh37.p13 chr21: 24,279,373-32,404,869 , KRTAP13-1, 136 more genes
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