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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5955217insertion1nstd209human GRCh38 chr2: 218,780,459-218,780,459 , GRCh37.p13 chr2: 219,645,182-219,645,182 CYP27A1
    nsv5900653copy number variation1nstd209human GRCh38 chr2: 218,779,934-218,780,159 , GRCh37.p13 chr2: 219,644,657-219,644,882 CYP27A1
    nsv5730121mobile element insertion2nstd211human GRCh38 chr2: 218,802,018-218,802,018 , GRCh37.p13 chr2: 219,666,741-219,666,741 CYP27A1
    nsv5715160mobile element insertion1nstd211human GRCh38 chr2: 218,804,049-218,804,049 , GRCh37.p13 chr2: 219,668,772-219,668,772 CYP27A1
    nsv5673611copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 219,679,093-219,679,763 , GRCh38.p12 chr2: 218,814,370-218,815,040 CYP27A1
    nsv5620803insertion1nstd207human GRCh38 chr2: 218,802,015-218,802,015 , GRCh37.p13 chr2: 219,666,738-219,666,738 CYP27A1
    nsv5577579copy number variation1nstd207human GRCh38 chr2: 218,779,934-218,780,159 , GRCh37.p13 chr2: 219,644,657-219,644,882 CYP27A1
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5452651copy number variation1nstd206human GRCh38 chr2: 218,756,884-218,789,439 , GRCh37.p13 chr2: 219,621,607-219,654,162 CYP27A1, TTLL4
    nsv5439169copy number variation1nstd206human GRCh38 chr2: 218,779,935-218,780,160 , GRCh37.p13 chr2: 219,644,658-219,644,883 CYP27A1
    nsv5435954copy number variation1nstd206human GRCh38 chr2: 218,812,507-218,812,583 , GRCh37.p13 chr2: 219,677,230-219,677,306 CYP27A1
    nsv5361326translocation1nstd200human GRCh38 chr2: 218,781,320-218,781,320 , GRCh38 chr2: 218,781,379-218,781,379 , GRCh37.p13 chr2: 219,646,043-219,646,043 , GRCh37.p13 chr2: 219,646,102-219,646,102 CYP27A1
    nsv5361325translocation1nstd200human GRCh38 chr2: 218,779,935-218,779,935 , GRCh38 chr2: 218,780,160-218,780,160 , GRCh37.p13 chr2: 219,644,883-219,644,883 , GRCh37.p13 chr2: 219,644,658-219,644,658 CYP27A1
    nsv5339958translocation1nstd200human GRCh37 chr2: 219,644,883-219,644,883 , GRCh37 chr2: 219,644,658-219,644,658 , GRCh38.p12 chr2: 218,780,160-218,780,160 , GRCh38.p12 chr2: 218,779,935-218,779,935 CYP27A1
    nsv5318336copy number variation1nstd204human GRCh38.p13 chr2: 218,779,930-218,780,164 , GRCh37.p13 chr2: 219,644,653-219,644,887 CYP27A1
    nsv5029880inversion1nstd200human GRCh38 chr2: 213,444,845-219,177,092 , GRCh37.p13 chr2: 214,309,569-220,041,814 , LOC102724861, 122 more genes
    nsv4916915copy number variation1nstd200human GRCh38 chr2: 218,814,268-218,816,170 , GRCh37.p13 chr2: 219,678,991-219,680,893 CYP27A1
    nsv4916914copy number variation1nstd200human GRCh38 chr2: 218,808,091-218,808,175 , GRCh37.p13 chr2: 219,672,814-219,672,898 CYP27A1
    nsv4796006copy number variation1nstd200human GRCh37 chr2: 219,678,991-219,680,893 , GRCh38.p12 chr2: 218,814,268-218,816,170 CYP27A1
    nsv4796005copy number variation1nstd200human GRCh37 chr2: 219,672,814-219,672,898 , GRCh38.p12 chr2: 218,808,091-218,808,175 CYP27A1
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