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Items: 1 to 20 of 193

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112757copy number variation1nstd102humanPathogenic GRCh37 chr2: 220,056,891-227,164,817 , GRCh38.p12 chr2: 219,192,169-226,300,101 DES, SPEG, 100 more genes
    nsv5904034copy number variation1nstd209human GRCh38 chr2: 219,383,823-219,383,895 , GRCh37.p13 chr2: 220,248,545-220,248,617 DNPEP
    nsv5903222copy number variation1nstd209human GRCh38 chr2: 219,370,017-219,370,153 , GRCh37.p13 chr2: 220,234,739-220,234,875 DNPEP
    nsv5892864copy number variation1nstd209human GRCh38 chr2: 219,388,023-219,388,257 , GRCh37.p13 chr2: 220,252,745-220,252,979 DNPEP-AS1, DNPEP
    nsv5832210copy number variation2nstd209human GRCh38 chr2: 219,381,953-219,382,952 , GRCh37.p13 chr2: 220,246,675-220,247,674 DNPEP
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5181074mobile element insertion1nstd203human GRCh38 chr2: 219,390,425-219,390,425 , GRCh37.p13 chr2: 220,255,147-220,255,147 DNPEP-AS1, DNPEP
    nsv4916941copy number variation1nstd200human GRCh38 chr2: 219,373,594-219,379,095 , GRCh37.p13 chr2: 220,238,316-220,243,817 DNPEP
    nsv4913954copy number variation1nstd200human GRCh38 chr2: 219,389,224-219,397,796 , GRCh37.p13 chr2: 220,253,946-220,262,518 DNPEP, DNPEP-AS1
    nsv4804632copy number variation1nstd200human GRCh37 chr2: 220,253,946-220,262,518 , GRCh38.p12 chr2: 219,389,224-219,397,796 DNPEP-AS1, DNPEP
    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
    nsv4583391copy number variation1nstd183human GRCh37 chr2: 220,251,461-220,253,572 , GRCh38.p12 chr2: 219,386,739-219,388,850 DNPEP, DNPEP-AS1
    nsv4547173insertion1nstd166human GRCh37.p13 chr2: 220,260,602-220,260,602 , GRCh38.p12 chr2: 219,395,880-219,395,880 DNPEP, DNPEP-AS1
    nsv4518523copy number variation1nstd166human GRCh37.p13 chr2: 220,253,946-220,262,518 , GRCh38.p12 chr2: 219,389,224-219,397,796 DNPEP-AS1, DNPEP
    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
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