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Items: 1 to 20 of 113

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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
    nsv4898496copy number variation1nstd200human GRCh38 chr1: 210,852,880-210,858,877 , GRCh37.p13 chr1: 211,026,222-211,032,219 IPO8P1, KCNH1
    nsv4898495copy number variation1nstd200human GRCh38 chr1: 210,827,751-211,078,127 , GRCh37.p13 chr1: 211,001,093-211,251,469 IPO8P1, KCNH1
    nsv4774229copy number variation1nstd200human GRCh37 chr1: 211,026,222-211,032,219 , GRCh38.p12 chr1: 210,852,880-210,858,877 IPO8P1, KCNH1
    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
    nsv4728360copy number variation1nstd102humanUncertain significance GRCh37 chr1: 210,893,330-211,191,623 , GRCh38.p12 chr1: 210,719,988-211,018,281 KCNH1, LOC105372901, 1 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
    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
    nsv4594274copy number variation1nstd183human GRCh37 chr1: 211,000,868-211,248,543 , GRCh38.p12 chr1: 210,827,526-211,075,201 KCNH1, IPO8P1
    nsv4516715copy number variation1nstd166human GRCh37.p13 chr1: 207,930,080-214,726,645 , GRCh38.p12 chr1: 207,756,735-214,553,302 , UTP25, 121 more genes
    nsv4452160copy number variation1nstd102humanUncertain significance GRCh37 chr1: 206,329,070-213,263,817 , GRCh38.p12 chr1: 206,308,879-213,090,475 CDCA4P4, LOC105372889, 146 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
    nsv4067926copy number variation1nstd166human GRCh37.p13 chr1: 211,020,000-211,044,000 , GRCh38.p12 chr1: 210,846,658-210,870,658 KCNH1, IPO8P1
    nsv3917200copy number variation1nstd102humanPathogenic NCBI36 chr1: 206,303,429-210,147,777 , GRCh37.p13 chr1: 208,236,806-212,081,154 , GRCh38.p12 chr1: 208,063,461-211,907,812 LOC105372904, TRAF3IP3, 68 more genes
    nsv3897747copy number variation1nstd102humanPathogenic GRCh38 chr1: 207,346,642-248,930,485 , GRCh37 chr1: 207,519,987-249,224,684 , NCBI36 chr1: 205,586,610-247,191,307 RPS18P3, LOC128136, 793 more genes
    nsv3895767copy number variation1nstd102humanPathogenic GRCh38 chr1: 187,143,981-224,299,417 , NCBI36 chr1: 185,379,736-222,553,742 , GRCh37 chr1: 187,113,113-224,487,119 LOC107985458, SLC45A3, 590 more genes
    nsv3892818copy number variation1nstd102humanPathogenic GRCh38 chr1: 209,963,625-248,918,469 , GRCh37 chr1: 210,136,970-249,212,668 , NCBI36 chr1: 208,203,593-247,179,291 LOC105373046, MIR4677, 740 more genes
    nsv3892738copy number variation1nstd102humanPathogenic GRCh37 chr1: 204,734,042-225,596,400 , NCBI36 chr1: 203,000,665-223,663,023 , GRCh38 chr1: 204,764,914-225,408,698 HLX, SNORA16B, 354 more genes
    nsv3890682copy number variation1nstd102humanPathogenic GRCh37 chr1: 209,819,552-249,225,312 , NCBI36 chr1: 207,886,175-247,191,935 , GRCh38 chr1: 209,646,207-248,931,113 HLX, LOC107985281, 749 more genes
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