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Items: 1 to 20 of 142

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5951258insertion1nstd209human GRCh38 chr2: 219,159,552-219,159,552 , GRCh37.p13 chr2: 220,024,274-220,024,274 NHEJ1, SLC23A3
    nsv5607589insertion1nstd207human GRCh38 chr2: 219,159,552-219,159,552 , GRCh37.p13 chr2: 220,024,274-220,024,274 SLC23A3, NHEJ1
    nsv5573495copy number variation1nstd207human GRCh38 chr2: 219,159,514-219,159,575 , GRCh37.p13 chr2: 220,024,236-220,024,297 SLC23A3, NHEJ1
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5450594copy number variation1nstd206human GRCh38 chr2: 219,159,535-219,159,589 , GRCh37.p13 chr2: 220,024,257-220,024,311 NHEJ1, SLC23A3
    nsv5029880inversion1nstd200human GRCh38 chr2: 213,444,845-219,177,092 , GRCh37.p13 chr2: 214,309,569-220,041,814 , LOC102724861, 122 more genes
    nsv4916927copy number variation1nstd200human GRCh38 chr2: 219,165,960-219,167,541 , GRCh37.p13 chr2: 220,030,682-220,032,263 SLC23A3
    nsv4796013copy number variation1nstd200human GRCh37 chr2: 220,030,682-220,032,263 , GRCh38.p12 chr2: 219,165,960-219,167,541 SLC23A3
    nsv4754066insertion1nstd199human GRCh37 chr2: 220,024,223-220,024,223 , GRCh38.p12 chr2: 219,159,501-219,159,501 NHEJ1, SLC23A3
    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
    nsv4728598copy number variation1nstd102humanUncertain significance GRCh37 chr2: 219,797,684-220,088,582 , GRCh38.p12 chr2: 218,932,962-219,223,860 RN7SL764P, CNPPD1, 17 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
    nsv4555690insertion1nstd166human GRCh37.p13 chr2: 220,024,224-220,024,224 , GRCh38.p12 chr2: 219,159,502-219,159,502 SLC23A3, NHEJ1
    nsv4450757copy number variation1nstd102humanUncertain significance GRCh37 chr2: 219,879,593-220,346,596 , GRCh38.p12 chr2: 219,014,871-219,481,874 ATG9A, DES, 27 more genes
    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
    nsv4315068inversion1nstd166human GRCh37.p13 chr2: 208,775,197-231,007,646 , GRCh38.p12 chr2: 207,910,473-230,142,930 , BCS1L, 344 more genes
    nsv4091147copy number variation1nstd166human GRCh37.p13 chr2: 220,024,257-220,024,311 , GRCh38.p12 chr2: 219,159,535-219,159,589 NHEJ1, SLC23A3
    nsv4089198copy number variation1nstd166human GRCh37.p13 chr2: 220,024,253-220,024,324 , GRCh38.p12 chr2: 219,159,531-219,159,602 NHEJ1, SLC23A3
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