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Items: 1 to 20 of 180

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5677035mobile element insertion2nstd211human GRCh38 chr2: 218,588,614-218,588,614 , GRCh37.p13 chr2: 219,453,337-219,453,337 RNU6-136P, CNOT9
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5557181sequence alteration1nstd206human GRCh38 chr2: 218,583,717-218,583,725 , GRCh37.p13 chr2: 219,448,440-219,448,448 CNOT9
    nsv5545719insertion1nstd206human GRCh38 chr2: 218,583,717-218,583,717 , GRCh37.p13 chr2: 219,448,440-219,448,440 CNOT9
    nsv5438242copy number variation1nstd206human GRCh38 chr2: 218,583,685-218,584,695 , GRCh37.p13 chr2: 219,448,408-219,449,418 CNOT9
    nsv5377355translocation1nstd200human GRCh38 chr2: 218,584,655-218,584,655 , GRCh38 chr2: 218,583,725-218,583,725 , GRCh37.p13 chr2: 219,448,448-219,448,448 , GRCh37.p13 chr2: 219,449,378-219,449,378 CNOT9
    nsv5361322translocation1nstd200human GRCh38 chr2: 218,584,270-218,584,270 , GRCh38 chr2: 218,583,717-218,583,717 , GRCh37.p13 chr2: 219,448,440-219,448,440 , GRCh37.p13 chr2: 219,448,993-219,448,993 CNOT9
    nsv5345987translocation1nstd200human GRCh37 chr2: 219,448,440-219,448,440 , GRCh37 chr2: 219,448,993-219,448,993 , GRCh38.p12 chr2: 218,584,270-218,584,270 , GRCh38.p12 chr2: 218,583,717-218,583,717 CNOT9
    nsv5060083mobile element insertion1nstd203human GRCh38 chr2: 218,580,469-218,580,484 , GRCh37.p13 chr2: 219,445,192-219,445,207 CNOT9
    nsv5029880inversion1nstd200human GRCh38 chr2: 213,444,845-219,177,092 , GRCh37.p13 chr2: 214,309,569-220,041,814 , LOC102724861, 122 more genes
    nsv4804628copy number variation1nstd200human GRCh37 chr2: 219,448,448-219,449,378 , GRCh38.p12 chr2: 218,583,725-218,584,655 CNOT9
    nsv4728725copy number variation1nstd102humanPathogenic GRCh37 chr2: 178,397,959-243,007,457 , GRCh38.p12 chr2: 177,533,231-242,065,306 LOC105376755, FZD7, 1013 more genes
    nsv4728446copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 215,122,019-220,397,907 , GRCh38.p12 chr2: 214,257,295-219,533,185 AAMP, ATIC, 139 more genes
    nsv4673965copy number variation1nstd102humanPathogenic GRCh37 chr2: 216,883,237-220,953,003 , GRCh38.p12 chr2: 216,018,514-220,088,282 LOC105373887, STK11IP, 138 more genes
    nsv4545222insertion1nstd166human GRCh37.p13 chr2: 219,445,192-219,445,192 , GRCh38.p12 chr2: 218,580,469-218,580,469 CNOT9
    nsv4465645mobile element insertion1nstd166human GRCh37.p13 chr2: 219,441,916-219,441,916 , GRCh38.p12 chr2: 218,577,193-218,577,193 CNOT9
    nsv4436532copy number variation1nstd102humanPathogenic GRCh37 chr2: 188,926,928-225,298,653 , GRCh38.p12 chr2: 188,062,201-224,433,936 MARS2, KRT18P19, 575 more genes
    nsv4435891copy number variation1nstd102humanPathogenic GRCh37 chr2: 210,779,657-239,879,183 , GRCh38.p12 chr2: 209,914,933-238,957,487 XRCC5, LINC01173, 494 more genes
    nsv4347291copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 218,271,898-219,825,640 , GRCh38.p12 chr2: 217,407,175-218,960,918 AAMP, BCS1L, 51 more genes
    nsv4315068inversion1nstd166human GRCh37.p13 chr2: 208,775,197-231,007,646 , GRCh38.p12 chr2: 207,910,473-230,142,930 , BCS1L, 344 more genes
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