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Items: 1 to 20 of 127

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5677434mobile element insertion1nstd211human GRCh38 chr2: 219,014,502-219,014,502 , GRCh37.p13 chr2: 219,879,224-219,879,224 CFAP65, LOC100129175
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5449066copy number variation1nstd206human GRCh38 chr2: 219,000,435-219,000,496 , GRCh37.p13 chr2: 219,865,157-219,865,218 LOC100129175, MIR375
    nsv5439283copy number variation1nstd206human GRCh38 chr2: 219,004,901-219,004,986 , GRCh37.p13 chr2: 219,869,623-219,869,708 LOC100129175, CFAP65
    nsv5394044mobile element insertion1nstd206human GRCh38 chr2: 219,014,502-219,014,553 , GRCh37.p13 chr2: 219,879,224-219,879,275 LOC100129175, CFAP65
    nsv5029880inversion1nstd200human GRCh38 chr2: 213,444,845-219,177,092 , GRCh37.p13 chr2: 214,309,569-220,041,814 , LOC102724861, 122 more genes
    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
    nsv4658303copy number variation1nstd186human GRCh37 chr2: 219,866,369-219,866,413 , GRCh38.p12 chr2: 219,001,647-219,001,691 CFAP65, MIR375, 1 more genes
    nsv4595337copy number variation1nstd183human GRCh37 chr2: 219,866,369-219,867,928 , GRCh38.p12 chr2: 219,001,647-219,003,206 CFAP65, LOC100129175, 1 more genes
    nsv4583386copy number variation1nstd183human GRCh37 chr2: 219,866,369-219,866,413 , GRCh38.p12 chr2: 219,001,647-219,001,691 LOC100129175, CFAP65, 1 more genes
    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
    nsv4341054sequence alteration1nstd166human GRCh37.p13 chr2: 219,645,588-219,974,461 , GRCh38.p12 chr2: 218,780,865-219,109,739 , PRKAG3, 22 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
    nsv4077607copy number variation1nstd166human GRCh37.p13 chr2: 219,867,667-219,876,434 , GRCh38.p12 chr2: 219,002,945-219,011,712 CFAP65, LOC100129175
    nsv3924199copy number variation1nstd102humanUncertain significance NCBI36 chr2: 130,861,065-242,751,149 , GRCh37.p13 chr2: 131,144,595-243,102,476 , GRCh38.p12 chr2: 130,387,022-242,160,331 METAP1D, UBE2E3-DT, 1635 more genes
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