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Items: 1 to 20 of 156

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7049124inversion1nstd229human GRCh38 chr2: 174,401,435-175,981,960 , GRCh37.p13 chr2: 175,266,163-176,846,688 LNPK, RNU7-44P, 19 more genes
    nsv6685285copy number variation1nstd229human GRCh38 chr2: 175,156,001-175,206,700 , GRCh37.p13 chr2: 176,020,729-176,071,428 MIR933, ATP5MC3, 2 more genes
    nsv6637115copy number variation1nstd102humanPathogenic GRCh37 chr2: 175,143,352-180,999,636 , GRCh38.p12 chr2: 174,278,624-180,134,909 RNU6-5P, LOC101927073, 107 more genes
    nsv6340385copy number variation1nstd223human GRCh38 chr2: 175,177,172-175,182,569 , GRCh37.p13 chr2: 176,041,900-176,047,297 ATP5MC3, RPS15AP14
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6315016copy number variation1nstd102humanPathogenic GRCh37 chr2: 171,524,396-178,694,337 , GRCh38.p12 chr2: 170,667,886-177,829,610 LOC105373746, HAGLROS, 136 more genes
    nsv6291326copy number variation1nstd102humannot provided GRCh37 chr2: 174,631,045-177,365,790 , GRCh38.p12 chr2: 173,766,317-176,501,062 RNU6-5P, RPS15AP14, 56 more genes
    nsv6134500copy number variation1nstd213human GRCh37 chr2: 149,790,000-179,310,001 , GRCh38.p12 chr2: 148,934,069-178,445,274 , ACVR1, 394 more genes
    nsv5904030copy number variation1nstd209human GRCh38 chr2: 175,181,989-175,199,620 , GRCh37.p13 chr2: 176,046,717-176,064,348 RPS15AP14, ATP5MC3
    nsv5831444copy number variation1nstd209human GRCh38 chr2: 175,181,967-175,199,931 , GRCh37.p13 chr2: 176,046,695-176,064,659 ATP5MC3, RPS15AP14
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5381341copy number variation1nstd102humanPathogenic GRCh37 chr2: 171,999,572-182,774,361 , GRCh38.p12 chr2: 171,143,062-181,909,634 ALDH7A1P2, LOC101927055, 174 more genes
    nsv5033955inversion1nstd200human GRCh38 chr2: 103,800,446-187,202,765 , GRCh37.p13 chr2: 104,416,904-188,067,492 , EDDM3CP, 1184 more genes
    nsv4879764inversion1nstd200human GRCh37 chr2: 104,416,904-188,067,492 , GRCh38.p12 chr2: 103,800,446-187,202,765 , ACMSD, 1184 more genes
    nsv4768307copy number variation1nstd102humanPathogenic GRCh37 chr2: 163,078,055-182,119,617 , GRCh38.p12 chr2: 162,221,545-181,254,890 RBM45, LOC102724194, 258 more genes
    nsv4674757copy number variation1nstd102humanPathogenic GRCh37 chr2: 174,690,039-195,521,582 , GRCh38.p12 chr2: 173,825,311-194,656,858 OSBPL6, DNAJC19P5, 256 more genes
    nsv4674383copy number variation1nstd102humanPathogenic GRCh37 chr2: 163,233,162-211,927,188 , GRCh38.p12 chr2: 162,376,652-211,062,464 SNORA41, LOC101929633, 663 more genes
    nsv4595133copy number variation1nstd183human GRCh37 chr2: 175,892,126-176,704,823 , GRCh38.p12 chr2: 175,027,398-175,840,095 ATP5MC3, ATF2, 6 more genes
    nsv4454648copy number variation1nstd102humanPathogenic GRCh37 chr2: 173,538,954-186,401,606 , GRCh38.p12 chr2: 172,674,226-185,536,879 PDE11A, LOC100289479, 176 more genes
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