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Items: 1 to 20 of 306

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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
    nsv5979500inversion1nstd209human GRCh38 chr21: 22,252,993-27,920,987 , GRCh37.p13 chr21: 23,625,313-29,293,306 , APP, 60 more genes
    nsv5960733copy number variation1nstd209human GRCh38 chr21: 25,734,431-25,734,480 , GRCh37.p13 chr21: 27,106,742-27,106,791 ATP5PF, GABPA
    nsv5952914copy number variation1nstd209human GRCh38 chr21: 25,754,201-25,755,067 , GRCh37.p13 chr21: 27,126,512-27,127,378 GABPA
    nsv5882159copy number variation1nstd209human GRCh38 chr21: 25,753,896-25,755,595 , GRCh37.p13 chr21: 27,126,207-27,127,906 GABPA
    nsv5728459mobile element insertion1nstd211human GRCh38 chr21: 25,760,676-25,760,676 , GRCh37.p13 chr21: 27,132,987-27,132,987 GABPA, LLPHP2
    nsv5710150mobile element insertion2nstd211human GRCh38 chr21: 25,762,883-25,762,883 , GRCh37.p13 chr21: 27,135,194-27,135,194 GABPA, LLPHP2
    nsv5539790insertion1nstd206human GRCh38 chr21: 5,227,438-39,583,816 , GRCh37.p13 chr21: 10,697,897-44,966,043 , LOC100419041, 557 more genes
    nsv5522323copy number variation1nstd206human GRCh38 chr21: 25,732,890-25,733,403 , GRCh37.p13 chr21: 27,105,201-27,105,714 ATP5PF, GABPA
    nsv5433596mobile element insertion1nstd206human GRCh38 chr21: 25,762,883-25,762,934 , GRCh37.p13 chr21: 27,135,194-27,135,245 LLPHP2, GABPA
    nsv5360185translocation1nstd200human GRCh38 chr21: 25,732,890-25,732,890 , GRCh38 chr21: 25,733,403-25,733,403 , GRCh37.p13 chr21: 27,105,201-27,105,201 , GRCh37.p13 chr21: 27,105,714-27,105,714 ATP5PF, GABPA
    nsv5345821translocation1nstd200human GRCh37 chr21: 27,105,201-27,105,201 , GRCh37 chr21: 27,105,714-27,105,714 , GRCh38.p12 chr21: 25,733,403-25,733,403 , GRCh38.p12 chr21: 25,732,890-25,732,890 GABPA, ATP5PF
    nsv5168126mobile element insertion1nstd203human GRCh38 chr21: 25,738,950-25,738,961 , GRCh37.p13 chr21: 27,111,261-27,111,272 GABPA
    nsv5165023mobile element insertion1nstd203human GRCh38 chr21: 25,757,293-25,757,307 , GRCh37.p13 chr21: 27,129,604-27,129,618 GABPA
    nsv5029288copy number variation1nstd200human GRCh38 chr21: 23,339,082-26,700,976 , GRCh37.p13 chr21: 24,711,404-28,073,295 LINC01684, CYYR1-AS1, 37 more genes
    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
    nsv4862937copy number variation1nstd200human GRCh37 chr21: 27,126,512-27,127,379 , GRCh38.p12 chr21: 25,754,201-25,755,068 GABPA
    nsv4758019inversion1nstd199human GRCh37 chr21: 23,626,191-29,293,562 , GRCh38.p12 chr21: 22,253,871-27,921,243 , APP, 60 more genes
    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
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