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Items: 1 to 20 of 184

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4684268copy number variation4nstd102humanrisk factor, Benign GRCh37 chr5: 160,796,703-160,797,020 , GRCh38.p12 chr5: 161,369,697-161,370,014 GABRB2
    nsv4684263copy number variation4nstd102humanrisk factor, Benign GRCh37 chr5: 160,715,688-160,717,804 , GRCh38.p12 chr5: 161,288,681-161,290,797 GABRB2
    nsv3894117copy number variation1nstd102humannot provided GRCh37 chr8: 53,468,370-53,720,613 , GRCh38.p12 chr8: 52,555,810-52,808,053 LOC105375835, ALKAL1, 1 more genes
    nsv3889837copy number variation1nstd102humanLikely pathogenic GRCh38 chr8: 52,541,254-52,713,461 , GRCh37.p13 chr8: 53,453,814-53,626,021 RB1CC1, ALKAL1
    nsv3889756copy number variation1nstd102humanLikely pathogenic GRCh38 chr7: 110,509,840-112,783,102 , GRCh37.p13 chr7: 110,149,897-112,423,157 IFRD1, DOCK4, 21 more genes
    nsv3889715copy number variation1nstd102humanLikely pathogenic GRCh38 chr6: 162,229,459-162,495,982 , GRCh37.p13 chr6: 162,650,491-162,917,014 PRKN, LOC105369171, 1 more genes
    nsv3889660copy number variation2nstd102humanPathogenic, Likely pathogenic GRCh38 chr17: 36,357,256-37,995,300 , GRCh37.p13 chr17: 34,900,240-35,888,667 ACACA, LHX1, 45 more genes
    nsv3889650copy number variation1nstd102humanLikely pathogenic GRCh38 chr1: 109,048,899-109,079,629 , GRCh37.p13 chr1: 109,591,521-109,622,251 TAF13, TMEM167B-DT
    nsv3889414copy number variation1nstd102humanPathogenic GRCh38 chr16: 14,780,667-16,415,941 , GRCh37.p13 chr16: 14,874,524-16,509,798 NPIPA7, PDXDC1, 51 more genes
    nsv3889304copy number variation1nstd102humanLikely pathogenic GRCh38 chr15: 72,640,623-75,277,317 , GRCh37.p13 chr15: 72,932,964-75,569,658 BBS4, CLK3, 75 more genes
    nsv3889265copy number variation1nstd102humanLikely pathogenic GRCh38 chr3: 41,803,875-41,849,829 , GRCh37.p13 chr3: 41,845,367-41,891,321 ULK4
    nsv3889184copy number variation1nstd102humanLikely pathogenic GRCh38 chr6: 162,145,541-162,226,576 , GRCh37.p13 chr6: 162,566,573-162,647,608 PRKN
    nsv3888931copy number variation1nstd102humanLikely pathogenic GRCh38 chr16: 6,631,947-7,029,167 , GRCh37.p13 chr16: 6,681,948-7,079,168 RBFOX1, RNU6-328P, 2 more genes
    nsv3888692copy number variation1nstd102humanLikely pathogenic GRCh38 chr2: 177,895,779-177,946,731 , GRCh37.p13 chr2: 178,760,506-178,811,458 PDE11A
    nsv3888683copy number variation1nstd102humanPathogenic GRCh38 chr16: 29,614,026-30,184,960 , GRCh37.p13 chr16: 29,625,347-30,196,281 CA5AP1, MAZ, 36 more genes
    nsv3888659copy number variation1nstd102humanLikely pathogenic GRCh38 chr15: 30,506,022-32,161,746 , GRCh37.p13 chr15: 30,798,225-32,453,947 CHRNA7, TRPM1, 29 more genes
    nsv3888640copy number variation1nstd102humanLikely pathogenic GRCh38 chr6: 57,046,622-57,092,420 , GRCh37.p13 chr6: 56,911,420-56,957,218 ZNF451, KIAA1586
    nsv3888596copy number variation1nstd102humanLikely pathogenic GRCh38 chr8: 10,252,025-10,336,231 , GRCh37.p13 chr8: 10,109,535-10,193,741 MSRA, LOC100420053
    nsv3888391copy number variation1nstd102humanLikely pathogenic GRCh38 chr22: 22,638,171-23,320,336 , GRCh37.p13 chr22: 22,980,642-23,662,523 BCR, GNAZ, 67 more genes
    nsv3888386copy number variation1nstd102humanPathogenic GRCh38 chr2: 50,721,552-50,944,617 , GRCh37.p13 chr2: 50,948,690-51,171,755 NRXN1
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