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Items: 1 to 20 of 140

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5831374copy number variation2nstd209human GRCh38 chr2: 156,341,120-156,342,748 , GRCh37.p13 chr2: 157,197,632-157,199,260 FLJ46875
    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
    nsv5450895copy number variation1nstd206human GRCh38 chr2: 141,459,078-156,842,302 , GRCh37.p13 chr2: 142,216,647-157,698,814 , LOC105373696, 163 more genes
    nsv5434730copy number variation1nstd206human GRCh38 chr2: 148,693,148-164,933,481 , GRCh37.p13 chr2: 149,450,717-165,789,991 , RBM43, 205 more genes
    nsv5350892translocation1nstd200human GRCh38 chr2: 156,342,511-156,342,511 , GRCh38 chr2: 156,342,446-156,342,446 , GRCh37.p13 chr2: 157,199,023-157,199,023 , GRCh37.p13 chr2: 157,198,958-157,198,958 FLJ46875
    nsv5336074translocation1nstd200human GRCh37 chr2: 157,199,023-157,199,023 , GRCh37 chr2: 157,198,958-157,198,958 , GRCh38.p12 chr2: 156,342,446-156,342,446 , GRCh38.p12 chr2: 156,342,511-156,342,511 FLJ46875
    nsv5327227inversion1nstd204human GRCh37.p13 chr2: 151,300,232-168,612,803 , GRCh38.p13 chr2: 150,443,718-167,756,293 , RND3, 198 more genes
    nsv5035923inversion1nstd200human GRCh38 chr2: 83,726,586-172,391,178 , GRCh37.p13 chr2: 83,953,710-173,255,906 , MTND2P21, 1427 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
    nsv4728246copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 156,696,086-159,450,561 , GRCh38.p12 chr2: 155,839,574-158,594,049 ACVR1, GPD2, 33 more genes
    nsv4674349copy number variation1nstd102humanUncertain significance GRCh37 chr2: 157,170,397-157,846,289 , GRCh38.p12 chr2: 156,313,885-156,989,777 RPLP0P7, TRA-CGC3-1, 7 more genes
    nsv4674226copy number variation1nstd102humanPathogenic GRCh37 chr2: 147,173,792-158,346,266 , GRCh38.p12 chr2: 146,416,224-157,489,754 RBM43, LINC01931, 120 more genes
    nsv4674111copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 157,117,939-158,422,574 , GRCh38.p12 chr2: 156,261,427-157,566,062 GPD2, NR4A2, 16 more genes
    nsv4584271copy number variation1nstd183human GRCh37 chr2: 157,187,646-157,198,687 , GRCh38.p12 chr2: 156,331,134-156,342,175 NR4A2, FLJ46875
    nsv4452263copy number variation1nstd102humanUncertain significance GRCh37 chr2: 157,124,370-157,470,128 , GRCh38.p12 chr2: 156,267,858-156,613,616 GPD2, TRA-CGC3-1, 4 more genes
    nsv4451614copy number variation1nstd102humanUncertain significance GRCh37 chr2: 156,976,385-157,350,281 , GRCh38.p12 chr2: 156,119,873-156,493,769 GPD2, FLJ46875, 4 more genes
    nsv4450709copy number variation1nstd102humanUncertain significance GRCh37 chr2: 156,773,914-157,954,702 , GRCh38.p12 chr2: 155,917,402-157,098,190 TRG-GCC2-2, GPD2, 10 more genes
    nsv4379198copy number variation1nstd173human GRCh37 chr2: 156,856,880-157,946,670 , GRCh38.p12 chr2: 156,000,368-157,090,158 , NR4A2, 11 more genes
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