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Items: 1 to 20 of 222

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5831714copy number variation1nstd209human GRCh38 chr2: 162,170,947-162,172,146 , GRCh37.p13 chr2: 163,027,457-163,028,656 LOC101929532, FAP
    nsv5831405copy number variation1nstd209human GRCh38 chr2: 162,230,163-162,237,377 , GRCh37.p13 chr2: 163,086,673-163,093,887 FAP
    nsv5831404copy number variation1nstd209human GRCh38 chr2: 162,174,047-162,184,073 , GRCh37.p13 chr2: 163,030,557-163,040,583 FAP
    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
    nsv5443984copy number variation1nstd206human GRCh38 chr2: 162,208,787-162,284,499 , GRCh37.p13 chr2: 163,065,297-163,141,009 LOC105373724, FAP, 1 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
    nsv5366600translocation1nstd200human GRCh38 chr2: 162,239,961-162,239,961 , GRCh38 chr2: 162,244,146-162,244,146 , GRCh37.p13 chr2: 163,100,656-163,100,656 , GRCh37.p13 chr2: 163,096,471-163,096,471 LOC105373724, FAP
    nsv5344674translocation1nstd200human GRCh37 chr2: 163,096,471-163,096,471 , GRCh37 chr2: 163,100,656-163,100,656 , GRCh38.p12 chr2: 162,244,146-162,244,146 , GRCh38.p12 chr2: 162,239,961-162,239,961 LOC105373724, FAP
    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
    nsv4916095copy number variation1nstd200human GRCh38 chr2: 162,215,507-162,217,071 , GRCh37.p13 chr2: 163,072,017-163,073,581 FAP
    nsv4879764inversion1nstd200human GRCh37 chr2: 104,416,904-188,067,492 , GRCh38.p12 chr2: 103,800,446-187,202,765 , ACMSD, 1184 more genes
    nsv4789702copy number variation1nstd200human GRCh37 chr2: 163,081,921-163,081,989 , GRCh38.p12 chr2: 162,225,411-162,225,479 FAP
    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
    nsv4728409copy number variation1nstd102humanUncertain significance GRCh37 chr2: 162,620,633-163,421,321 , GRCh38.p12 chr2: 161,764,123-162,564,811 LOC105373724, EIF3EP2, 13 more genes
    nsv4685668copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 160,075,929-164,666,149 , GRCh38.p12 chr2: 159,219,418-163,809,639 DPP4, FAP, 53 more genes
    nsv4685660copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 161,561,653-163,178,787 , GRCh38.p12 chr2: 160,705,142-162,322,277 DPP4, FAP, 24 more genes
    nsv4595087copy number variation1nstd183human GRCh37 chr2: 163,046,129-163,046,433 , GRCh38.p12 chr2: 162,189,619-162,189,923 FAP
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