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Items: 1 to 20 of 281

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5709113mobile element insertion1nstd211human GRCh38 chr17: 59,123,120-59,123,120 , GRCh37.p13 chr17: 57,200,481-57,200,481 SKA2
    nsv5554090sequence alteration1nstd206human GRCh38 chr17: 32,109,732-67,925,723 , GRCh37.p13 chr17: 30,436,751-65,921,839 , APOH, 1099 more genes
    nsv5521307copy number variation1nstd206human GRCh38 chr17: 59,138,726-59,140,866 , GRCh37.p13 chr17: 57,216,087-57,218,227 SKA2
    nsv5377370translocation1nstd200human GRCh38 chr2: 232,736,431-232,736,431 , GRCh38 chr17: 59,138,995-59,138,995 , GRCh37.p13 chr17: 57,216,356-57,216,356 , GRCh37.p13 chr2: 233,601,141-233,601,141 SKA2, GIGYF2
    nsv5348616translocation1nstd200human GRCh38 chr17: 59,112,329-59,112,329 , GRCh38 chr13: 63,877,884-63,877,884 , GRCh37.p13 chr13: 64,452,017-64,452,017 , GRCh37.p13 chr17: 57,189,690-57,189,690 SKA2
    nsv5342294translocation1nstd200human GRCh37 chr13: 64,452,017-64,452,017 , GRCh37 chr17: 57,189,690-57,189,690 , GRCh38.p12 chr13: 63,877,884-63,877,884 , GRCh38.p12 chr17: 59,112,329-59,112,329 SKA2
    nsv5337298translocation1nstd200human GRCh37 chr17: 57,187,533-57,187,533 , GRCh37 chr13: 64,452,021-64,452,021 , GRCh38.p12 chr17: 59,110,172-59,110,172 , GRCh38.p12 chr13: 63,877,888-63,877,888 SKA2
    nsv5298720copy number variation1nstd204human GRCh38.p13 chr17: 59,082,701-59,325,700 , GRCh37.p13 chr17: 57,160,062-57,403,061 MIR301A, SKA2, 8 more genes
    nsv5156788mobile element insertion1nstd203human GRCh38 chr17: 59,121,793-59,121,814 , GRCh37.p13 chr17: 57,199,154-57,199,175 SKA2
    nsv5153842mobile element insertion1nstd203human GRCh38 chr17: 59,124,272-59,124,284 , GRCh37.p13 chr17: 57,201,633-57,201,645 SKA2
    nsv5013861copy number variation1nstd200human GRCh38 chr17: 59,134,253-59,538,267 , GRCh37.p13 chr17: 57,211,614-57,615,628 SNRPGP17, SKA2, 12 more genes
    nsv5013860copy number variation1nstd200human GRCh38 chr17: 59,080,078-59,110,137 , GRCh37.p13 chr17: 57,157,439-57,187,498 SKA2, TRIM37
    nsv5010405copy number variation1nstd200human GRCh38 chr17: 59,140,368-59,143,476 , GRCh37.p13 chr17: 57,217,729-57,220,837 SKA2
    nsv4684357copy number variation1nstd102humanPathogenic GRCh37 chr17: 56,780,562-57,251,609 , GRCh38.p12 chr17: 58,703,201-59,174,248 SPDYE22P, RNU6-518P, 11 more genes
    nsv4680823copy number variation1nstd189human GRCh37.p13 chr17: 57,107,776-57,835,713 , GRCh38.p12 chr17: 59,030,415-59,758,352 CLTC, TRIM37, 19 more genes
    nsv4667577copy number variation1nstd186human GRCh37 chr17: 57,232,556-57,233,080 , GRCh38.p12 chr17: 59,155,195-59,155,719 PRR11, SKA2
    nsv4628360copy number variation1nstd183human GRCh37 chr17: 57,177,662-57,346,706 , GRCh38.p12 chr17: 59,100,301-59,269,345 PRR11, RNU2-58P, 7 more genes
    nsv4627810copy number variation2nstd183human GRCh37 chr17: 57,232,556-57,233,080 , GRCh38.p12 chr17: 59,155,195-59,155,719 PRR11, SKA2
    nsv4558089mobile element insertion1nstd166human GRCh37.p13 chr17: 57,213,912-57,213,912 , GRCh38.p12 chr17: 59,136,551-59,136,551 SKA2, MIR454
    nsv4503972mobile element insertion1nstd166human GRCh37.p13 chr17: 57,200,464-57,200,464 , GRCh38.p12 chr17: 59,123,103-59,123,103 SKA2
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