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Items: 1 to 20 of 142

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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
    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
    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
    nsv4915951copy number variation1nstd200human GRCh38 chr2: 157,314,851-157,317,001 , GRCh37.p13 chr2: 158,171,363-158,173,513 ERMN, GALNT5
    nsv4879764inversion1nstd200human GRCh37 chr2: 104,416,904-188,067,492 , GRCh38.p12 chr2: 103,800,446-187,202,765 , ACMSD, 1184 more genes
    nsv4789584copy number variation1nstd200human GRCh37 chr2: 158,171,363-158,173,513 , GRCh38.p12 chr2: 157,314,851-157,317,001 ERMN, GALNT5
    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
    nsv4679120copy number variation1nstd189human GRCh37.p13 chr2: 158,019,087-158,481,356 , GRCh38.p12 chr2: 157,162,575-157,624,844 , CYTIP, 7 more genes
    nsv4674417copy number variation1nstd102humanUncertain significance GRCh37 chr2: 157,873,775-158,514,510 , GRCh38.p12 chr2: 157,017,263-157,657,998 LOC105373712, ACVR1C, 8 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
    nsv4582375copy number variation1nstd183human GRCh37 chr2: 158,159,836-158,480,745 , GRCh38.p12 chr2: 157,303,324-157,624,233 , CYTIP, 5 more genes
    nsv3962173copy number variation1nstd168human GRCh38 chr2: 157,311,705-157,336,406 , GRCh37.p13 chr2: 158,168,217-158,192,918 ERMN, GALNT5
    nsv3924199copy number variation1nstd102humanUncertain significance NCBI36 chr2: 130,861,065-242,751,149 , GRCh37.p13 chr2: 131,144,595-243,102,476 , GRCh38.p12 chr2: 130,387,022-242,160,331 METAP1D, UBE2E3-DT, 1635 more genes
    nsv3923963copy number variation1nstd102humanUncertain significance NCBI36 chr2: 110,190,938-242,751,149 , GRCh37.p13 chr2: 110,833,649-243,102,476 , GRCh38.p12 chr2: 110,076,072-242,160,331 NMTRQ-TTG9-1, MIR6810, 1944 more genes
    nsv3922653copy number variation1nstd102humanPathogenic NCBI36 chr2: 154,499,404-159,392,834 , GRCh37.p13 chr2: 154,791,158-159,684,588 , GRCh38.p12 chr2: 153,934,645-158,828,076 CCDC148, LINC01876, 59 more genes
    nsv3921316copy number variation1nstd102humanPathogenic NCBI36 chr2: 155,624,215-165,414,901 , GRCh37.p13 chr2: 155,915,969-165,706,655 , GRCh38.p12 chr2: 155,059,457-164,850,145 LOC105373712, MTCO1P45, 121 more genes
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