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Items: 1 to 20 of 147

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5884342copy number variation1nstd209human GRCh38 chr1: 221,964,560-227,275,238 , GRCh37.p13 chr1: 222,137,902-227,462,939 , YBX1P9, 111 more genes
    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
    nsv5381067copy number variation1nstd102humanUncertain significance GRCh37 chr1: 226,125,121-226,128,860 , GRCh38.p12 chr1: 225,937,421-225,941,160 LEFTY2
    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
    nsv4683052copy number variation1nstd102humanUncertain significance GRCh37 chr1: 226,125,121-226,127,722 , GRCh38.p12 chr1: 225,937,421-225,940,022 LEFTY2
    nsv4682025copy number variation1nstd102humanUncertain significance GRCh37 chr1: 226,125,131-226,127,712 , GRCh38.p12 chr1: 225,937,431-225,940,012 LEFTY2
    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
    nsv4674157copy number variation1nstd102humanPathogenic GRCh37 chr1: 222,641,389-228,137,574 , GRCh38.p12 chr1: 222,468,047-227,949,873 SRP9, AKR1B1P1, 123 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
    nsv4674068copy number variation1nstd102humanUncertain significance GRCh37 chr1: 226,064,744-226,924,455 , GRCh38.p12 chr1: 225,877,044-226,736,754 LIN9, LEFTY2, 25 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
    nsv4450031copy number variation1nstd102humanUncertain significance GRCh37 chr1: 226,028,473-226,226,752 , GRCh38.p12 chr1: 225,840,772-226,039,051 SDE2, NDUFA3P3, 6 more genes
    nsv4345082sequence alteration1nstd166human GRCh37.p13 chr1: 226,108,980-226,617,280 , GRCh38.p12 chr1: 225,921,280-226,429,579 H3-3A, NDUFA3P3, 15 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
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