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Items: 1 to 20 of 163

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7056410inversion1nstd229human GRCh38 chr2: 155,671,571-160,808,437 , GRCh37.p13 chr2: 156,528,083-161,664,948 LOC105373714, PKP4-AS1, 64 more genes
    nsv7051057inversion1nstd229human GRCh38 chr2: 157,345,407-157,425,697 , GRCh37.p13 chr2: 158,201,919-158,282,209 CYTIP, FAM133DP
    nsv7048490inversion1nstd229human GRCh38 chr2: 156,054,444-158,055,095 , GRCh37.p13 chr2: 156,910,956-158,911,607 CYTIP, LINC01876, 23 more genes
    nsv7038090inversion1nstd229human GRCh38 chr2: 152,079,952-160,943,714 , GRCh37.p13 chr2: 152,936,466-161,800,225 , ITGB6, 105 more genes
    nsv6689518copy number variation1nstd229human GRCh38 chr2: 157,109,924-157,419,388 , GRCh37.p13 chr2: 157,966,436-158,275,900 RN7SKP281, CYTIP, 4 more genes
    nsv6683078copy number variation1nstd229human GRCh38 chr2: 154,503,385-158,170,825 , GRCh37.p13 chr2: 155,359,897-159,027,337 HEBP2P1, RNU6-436P, 48 more genes
    nsv6679833copy number variation1nstd229human GRCh38 chr2: 157,230,726-158,497,988 , GRCh37.p13 chr2: 158,087,238-159,354,500 LOC105373714, ERMN, 17 more genes
    nsv6636792copy number variation1nstd102humanUncertain significance GRCh37 chr2: 156,528,912-158,233,672 , GRCh38.p12 chr2: 155,672,400-157,377,160 RN7SKP281, HEBP2P1, 17 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6291446copy number variation1nstd102humanPathogenic GRCh37 chr2: 154,328,530-158,759,642 , GRCh38.p12 chr2: 153,472,016-157,903,130 RNU6-1001P, LOC105373709, 47 more genes
    nsv6291262copy number variation1nstd102humannot provided GRCh37 chr2: 152,967,964-160,089,210 , GRCh38.p12 chr2: 152,111,450-159,232,699 GALNT13-AS1, ARL6IP6, 85 more genes
    nsv6291000copy number variation1nstd102humanPathogenic GRCh37 chr2: 154,852,961-159,126,250 , GRCh38.p12 chr2: 153,996,448-158,269,738 LINC01876, ACVR1C, 52 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
    nsv6134430copy number variation1nstd213human GRCh37 chr2: 157,940,000-158,690,001 , GRCh38.p12 chr2: 157,083,488-157,833,489 ACVR1, CYTIP, 7 more genes
    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
    nsv5451194copy number variation1nstd206human GRCh38 chr2: 157,380,705-157,381,665 , GRCh37.p13 chr2: 158,237,217-158,238,177 FAM133DP
    nsv5434730copy number variation1nstd206human GRCh38 chr2: 148,693,148-164,933,481 , GRCh37.p13 chr2: 149,450,717-165,789,991 , RBM43, 205 more genes
    nsv5327227inversion1nstd204human GRCh37.p13 chr2: 151,300,232-168,612,803 , GRCh38.p13 chr2: 150,443,718-167,756,293 , RND3, 198 more genes
    nsv5073181mobile element insertion1nstd203human GRCh38 chr2: 157,377,196-157,377,209 , GRCh37.p13 chr2: 158,233,708-158,233,721 FAM133DP
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