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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv5074198mobile element insertion1nstd203human GRCh38 chr1: 228,203,723-228,203,734 , GRCh37.p13 chr1: 228,391,424-228,391,435 OBSCN-AS1
    nsv4774695copy number variation1nstd200human GRCh37 chr1: 228,390,324-228,390,627 , GRCh38.p12 chr1: 228,202,623-228,202,926 OBSCN-AS1
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4684187copy number variation1nstd102humanPathogenic GRCh37 chr1: 210,152,794-249,218,992 , GRCh38.p12 chr1: 209,979,449-248,924,793 HLX-AS1, OPN3, 740 more genes
    nsv4674785copy number variation1nstd102humanPathogenic GRCh37 chr1: 219,916,966-239,004,378 , GRCh38.p12 chr1: 219,743,624-238,841,078 RPL23AP23, LOC101927143, 414 more genes
    nsv4674140copy number variation1nstd102humanPathogenic GRCh37 chr1: 204,045,948-249,218,992 , GRCh38.p12 chr1: 204,076,820-248,924,793 RNA5S8, NTPCR, 893 more genes
    nsv4674115copy number variation1nstd102humanPathogenic GRCh37 chr1: 223,653,722-234,591,807 , GRCh38.p12 chr1: 223,480,380-234,456,061 LOC105373163, CDC42BPA, 258 more genes
    nsv4535640insertion1nstd166human GRCh37.p13 chr1: 228,391,424-228,391,424 , GRCh38.p12 chr1: 228,203,723-228,203,723 OBSCN-AS1
    nsv4454325copy number variation1nstd102humanUncertain significance GRCh37 chr1: 228,235,107-228,983,659 , GRCh38.p12 chr1: 228,047,406-228,847,912 IBA57-DT, RNA5SP19, 48 more genes
    nsv4450583copy number variation1nstd102humanPathogenic GRCh37 chr1: 182,388,773-249,111,240 , GRCh38.p12 chr1: 182,419,638-248,817,041 RGS18, LINC02257, 1186 more genes
    nsv4436266complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 228,165,950-228,360,200 , GRCh37 chr1: 228,353,651-228,547,901 OBSCN, IBA57, 3 more genes
    nsv4346629copy number variation1nstd102humanUncertain significance GRCh37 chr1: 228,224,824-228,784,907 , GRCh38.p12 chr1: 228,037,123-228,649,160 RNA5S9, ARF1, 46 more genes
    nsv3921757copy number variation1nstd102humannot provided NCBI36 chr1: 214,401,568-247,249,719 , GRCh37.p13 chr1: 216,334,945-249,233,096 , GRCh38.p12 chr1: 216,161,603-248,938,897 MTCYBP15, RNU4-77P, 658 more genes
    nsv3914847copy number variation1nstd102humanPathogenic NCBI36 chr1: 223,116,610-247,199,719 , GRCh37.p13 chr1: 225,049,987-249,233,096 , GRCh38.p12 chr1: 224,862,285-248,938,897 RNU6-1089P, TRE-CTC2-1, 518 more genes
    nsv3908695copy number variation1nstd102humanPathogenic NCBI36 chr1: 221,587,658-226,810,656 , GRCh38 chr1: 223,347,693-228,556,332 , GRCh37 chr1: 223,521,035-228,744,033 SNAP47, OBSCN-AS1, 137 more genes
    nsv3906964copy number variation1nstd102humanPathogenic GRCh37 chr1: 224,075,482-249,185,508 , NCBI36 chr1: 222,142,105-247,152,131 , GRCh38 chr1: 223,887,780-248,891,309 KIF26B, RPSAP21, 542 more genes
    nsv3903290copy number variation1nstd102humanPathogenic GRCh38 chr1: 223,815,147-248,918,469 , NCBI36 chr1: 222,069,472-247,179,291 , GRCh37 chr1: 224,002,849-249,212,668 RNA5S12, OR2T27, 546 more genes
    nsv3902226copy number variation1nstd102humanPathogenic NCBI36 chr1: 221,587,658-247,179,291 , GRCh37 chr1: 223,521,035-249,212,668 , GRCh38 chr1: 223,347,693-248,918,469 TFB2M, IBA57, 558 more genes
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