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Items: 1 to 20 of 138

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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
    nsv4898524copy number variation1nstd200human GRCh38 chr1: 211,665,693-211,673,387 , GRCh37.p13 chr1: 211,839,035-211,846,729 NEK2
    nsv4898523copy number variation1nstd200human GRCh38 chr1: 211,656,611-211,659,928 , GRCh37.p13 chr1: 211,829,953-211,833,270 NEK2, FDPSP8
    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
    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
    nsv4580629copy number variation1nstd183human GRCh37 chr1: 211,844,666-211,847,055 , GRCh38.p12 chr1: 211,671,324-211,673,713 NEK2
    nsv4580628copy number variation1nstd183human GRCh37 chr1: 211,844,593-211,847,055 , GRCh38.p12 chr1: 211,671,251-211,673,713 NEK2
    nsv4580290copy number variation1nstd183human GRCh37 chr1: 211,846,767-211,847,055 , GRCh38.p12 chr1: 211,673,425-211,673,713 NEK2
    nsv4557677mobile element insertion1nstd166human GRCh37.p13 chr1: 211,834,990-211,834,990 , GRCh38.p12 chr1: 211,661,648-211,661,648 FDPSP8, NEK2
    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
    nsv4064286copy number variation1nstd166human GRCh37.p13 chr1: 211,829,953-211,833,270 , GRCh38.p12 chr1: 211,656,611-211,659,928 FDPSP8, NEK2
    nsv4060370copy number variation1nstd166human GRCh37.p13 chr1: 211,849,435-211,849,555 , GRCh38.p12 chr1: 211,676,093-211,676,213 NEK2, NEK2-DT
    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
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