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Items: 1 to 20 of 136

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7043764inversion1nstd229human GRCh38 chr2: 169,756,513-170,924,608 , GRCh37.p13 chr2: 170,613,023-171,781,118 LINC01124, METTL5, 17 more genes
    nsv6696822copy number variation1nstd229human GRCh38 chr2: 170,714,675-170,715,577 , GRCh37.p13 chr2: 171,571,185-171,572,087 LINC01124, SP5, 1 more genes
    nsv6690613copy number variation1nstd229human GRCh38 chr2: 170,713,932-170,713,955 , GRCh37.p13 chr2: 171,570,442-171,570,465 ERICH2-DT, LINC01124, 1 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6315160copy number variation1nstd102humanPathogenic GRCh37 chr2: 160,347,642-174,075,851 , GRCh38.p12 chr2: 159,491,131-173,211,123 EIF3EP3, FAP, 158 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
    nsv6314505complex chromosomal rearrangement3nstd102humanUncertain significance GRCh38.p12 chr2: 161,774,564-161,774,564 , GRCh38.p12 chr2: 161,774,565-161,774,565 , GRCh38.p12 chr2: 170,691,142-170,691,142 , GRCh38.p12 chr2: 170,715,404-170,715,404 , GRCh37 chr2: 162,631,074-162,631,074 , GRCh37 chr2: 162,631,075-162,631,075 , GRCh37 chr2: 171,547,652-171,547,652 , GRCh37 chr2: 171,571,914-171,571,914 , GRCh38.p12 chr1: 40,806,541-40,806,541 , GRCh38.p12 chr1: 40,806,540-40,806,540 , GRCh37 chr1: 41,272,212-41,272,212 , GRCh37 chr1: 41,272,213-41,272,213 KCNQ4, SLC4A10, 2 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
    nsv6134160copy number variation1nstd213human GRCh37 chr2: 171,190,000-172,290,001 , GRCh38.p12 chr2: 170,333,490-171,433,491 GAD1, TLK1, 15 more genes
    nsv5831938copy number variation2nstd209human GRCh38 chr2: 170,714,013-170,715,079 , GRCh37.p13 chr2: 171,570,523-171,571,589 LINC01124, ERICH2-DT, 1 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
    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
    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
    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
    nsv4584330copy number variation1nstd183human GRCh37 chr2: 171,569,890-171,574,062 , GRCh38.p12 chr2: 170,713,380-170,717,552 SP5, ERICH2-DT, 1 more genes
    nsv4451512copy number variation1nstd102humanPathogenic GRCh37 chr2: 167,329,586-192,756,373 , GRCh38.p12 chr2: 166,473,076-191,891,647 LINC01117, LOC107985958, 339 more genes
    nsv4402048copy number variation1nstd174human GRCh37 chr2: 171,568,633-171,574,062 , GRCh38.p12 chr2: 170,712,123-170,717,552 SP5, LINC01124, 1 more genes
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