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Items: 1 to 20 of 415

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6113164mobile element insertion1nstd186human GRCh37 chr13: 78,135,108-78,135,159 , GRCh38.p12 chr13: 77,560,973-77,561,024 SCEL
    nsv5975911inversion1nstd209human GRCh38 chr13: 77,566,472-77,568,060 , GRCh37.p13 chr13: 78,140,607-78,142,195 SCEL
    nsv5936508copy number variation1nstd209human GRCh38 chr13: 77,597,135-77,598,049 , GRCh37.p13 chr13: 78,171,270-78,172,184 SCEL, SCEL-AS1
    nsv5856685copy number variation1nstd209human GRCh38 chr13: 77,597,105-77,598,104 , GRCh37.p13 chr13: 78,171,240-78,172,239 SCEL, SCEL-AS1
    nsv5724657mobile element insertion2nstd211human GRCh38 chr13: 77,566,474-77,566,474 , GRCh37.p13 chr13: 78,140,609-78,140,609 SCEL
    nsv5698947mobile element insertion2nstd211human GRCh38 chr13: 77,560,973-77,560,973 , GRCh37.p13 chr13: 78,135,108-78,135,108 SCEL
    nsv5672806copy number variation3nstd102humanUncertain significance, Pathogenic GRCh37 chr13: 77,566,087-78,492,734 , GRCh38.p12 chr13: 76,991,952-77,918,599 LOC107984564, MYCBP2-AS1, 13 more genes
    nsv5656219insertion1nstd207human GRCh38 chr13: 77,560,960-77,560,960 , GRCh37.p13 chr13: 78,135,095-78,135,095 SCEL
    nsv5645900insertion1nstd207human GRCh38 chr13: 77,566,461-77,566,461 , GRCh37.p13 chr13: 78,140,596-78,140,596 SCEL
    nsv5595433copy number variation1nstd207human GRCh38 chr13: 77,597,135-77,598,049 , GRCh37.p13 chr13: 78,171,270-78,172,184 SCEL-AS1, SCEL
    nsv5564510copy number variation1nstd102humanPathogenic GRCh37 chr13: 19,053,605-115,108,528 , GRCh38.p12 chr13: 18,479,465-114,343,053 RN7SL272P, DIAPH3, 1333 more genes
    nsv5554375sequence alteration1nstd206human GRCh38 chr13: 77,566,479-77,568,061 , GRCh37.p13 chr13: 78,140,614-78,142,196 SCEL
    nsv5548678insertion1nstd206human GRCh38 chr13: 77,566,480-77,566,480 , GRCh37.p13 chr13: 78,140,615-78,140,615 SCEL
    nsv5539159insertion1nstd206human GRCh38 chr13: 77,571,152-77,571,187 , GRCh37.p13 chr13: 78,145,287-78,145,322 SCEL
    nsv5508719copy number variation1nstd206human GRCh38 chr13: 77,550,312-77,550,366 , GRCh37.p13 chr13: 78,124,447-78,124,501 SCEL
    nsv5499886copy number variation1nstd206human GRCh38 chr13: 77,597,135-77,598,053 , GRCh37.p13 chr13: 78,171,270-78,172,188 SCEL, SCEL-AS1
    nsv5499766copy number variation1nstd206human GRCh38 chr13: 77,542,697-77,546,543 , GRCh37.p13 chr13: 78,116,832-78,120,678 SCEL
    nsv5498046copy number variation1nstd206human GRCh38 chr13: 77,536,337-77,536,419 , GRCh37.p13 chr13: 78,110,472-78,110,554 SCEL
    nsv5421599mobile element insertion1nstd206human GRCh38 chr13: 77,560,973-77,561,024 , GRCh37.p13 chr13: 78,135,108-78,135,159 SCEL
    nsv5374275translocation1nstd200human GRCh38 chr13: 77,566,514-77,566,514 , GRCh38 chr13: 77,567,749-77,567,749 , GRCh37.p13 chr13: 78,140,649-78,140,649 , GRCh37.p13 chr13: 78,141,884-78,141,884 SCEL
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