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Items: 1 to 20 of 130

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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
    nsv5040744inversion1nstd200human GRCh38 chr1: 219,848,359-220,334,963 , GRCh37.p13 chr1: 220,021,701-220,508,305 RPS15AP12, SNORA36B, 16 more genes
    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
    nsv4674721copy number variation1nstd102humanPathogenic GRCh37 chr1: 219,734,913-224,104,993 , GRCh38.p12 chr1: 219,561,571-223,917,291 PRELID3BP1, RNU6-403P, 82 more genes
    nsv4674260copy number variation1nstd102humanUncertain significance GRCh37 chr1: 219,959,610-220,609,144 , GRCh38.p12 chr1: 219,786,268-220,435,802 MIR215, RPLP0P5, 16 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
    nsv4580667copy number variation1nstd183human GRCh37 chr1: 220,368,291-221,357,283 , GRCh38.p12 chr1: 220,194,949-221,183,941 , MARK1, 23 more genes
    nsv4454794copy number variation1nstd102humanPathogenic GRCh37 chr1: 220,408,340-220,490,046 , GRCh38.p12 chr1: 220,234,998-220,316,704 RAB3GAP2, XRCC6P3, 3 more genes
    nsv4452084copy number variation1nstd102humanUncertain significance GRCh37 chr1: 219,379,258-222,049,547 , GRCh38.p12 chr1: 219,205,916-221,876,205 RNU6-403P, RPS15AP12, 46 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
    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
    nsv3906665copy number variation1nstd102humanPathogenic GRCh37 chr1: 215,620,690-222,145,174 , NCBI36 chr1: 213,687,313-220,211,797 , GRCh38 chr1: 215,447,347-221,971,832 UBBP2, LOC107985281, 77 more genes
    nsv3898157copy number variation2nstd102humanPathogenic NCBI36 chr1: 213,446,726-220,244,033 , GRCh38 chr1: 215,206,760-222,004,068 , GRCh37 chr1: 215,380,103-222,177,410 LINC01352, LOC105372928, 79 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
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