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Items: 1 to 20 of 105

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137724copy number variation1nstd102humanPathogenic GRCh37 chr1: 16,785,250-23,491,592 , GRCh38.p12 chr1: 16,458,755-23,165,099 PADI1, RPS15AP6, 176 more genes
    nsv5877582copy number variation1nstd209human GRCh38 chr1: 19,212,768-19,276,163 , GRCh37.p13 chr1: 19,539,262-19,602,657 AKR7A3, EMC1, 4 more genes
    nsv5874151copy number variation1nstd209human GRCh38 chr1: 13,714,112-20,623,728 , GRCh37.p13 chr1: 14,040,607-20,950,221 , TRV-CAC11-1, 171 more genes
    nsv5428180copy number variation1nstd206human GRCh38 chr1: 19,255,719-19,255,865 , GRCh37.p13 chr1: 19,582,213-19,582,359 MRTO4
    nsv4903145copy number variation1nstd200human GRCh38 chr1: 19,221,626-19,301,938 , GRCh37.p13 chr1: 19,548,120-19,628,432 EMC1, MRTO4, 5 more genes
    nsv4895149copy number variation1nstd200human GRCh38 chr1: 19,259,450-19,260,473 , GRCh37.p13 chr1: 19,585,944-19,586,967 MRTO4
    nsv4772217copy number variation1nstd200human GRCh37 chr1: 19,539,197-19,602,703 , GRCh38.p12 chr1: 19,212,703-19,276,209 AKR7A3, AKR7L, 4 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4728344copy number variation1nstd102humanPathogenic GRCh37 chr1: 17,284,906-21,778,495 , GRCh38.p12 chr1: 16,958,411-21,452,002 NBL1, AKR7A2, 98 more genes
    nsv4728309copy number variation1nstd102humanPathogenic GRCh37 chr1: 16,041,431-21,295,864 , GRCh38.p12 chr1: 15,714,936-20,969,371 RNU1-6P, TRG-CCC4-1, 150 more genes
    nsv4436680complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 973,858-24,379,779 , GRCh37 chr1: 909,238-24,706,269 ALPL, RERE, 636 more genes
    nsv4436486complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 17,229,013-24,379,779 , GRCh37 chr1: 17,555,508-24,706,269 ALPL, C1QA, 174 more genes
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 LINC01776, IGSF21-AS1, 1853 more genes
    nsv4386790copy number variation1nstd173human GRCh37 chr1: 19,584,004-19,645,746 , GRCh38.p12 chr1: 19,257,510-19,319,252 LOC100506730, AKR7A3, 5 more genes
    nsv3904607copy number variation1nstd102humanLikely benign GRCh38 chr1: 19,169,253-19,797,307 , NCBI36 chr1: 19,368,334-19,996,387 , GRCh37 chr1: 19,495,747-20,123,800 TMCO4, MICOS10-NBL1, 21 more genes
    nsv3902933copy number variation1nstd102humanPathogenic GRCh38 chr1: 19,093,306-20,063,342 , NCBI36 chr1: 19,292,387-20,262,422 , GRCh37 chr1: 19,419,800-20,389,835 MRTO4, RNF186, 29 more genes
    nsv3899287copy number variation1nstd102humanPathogenic GRCh37 chr1: 15,711,763-21,306,842 , NCBI36 chr1: 15,584,350-21,179,429 , GRCh38 chr1: 15,385,267-20,980,349 EMC1-AS1, TRV-CAC11-2, 166 more genes
    nsv3898082copy number variation1nstd102humanPathogenic GRCh37 chr1: 16,008,307-19,988,832 , NCBI36 chr1: 15,880,894-19,861,419 , GRCh38 chr1: 15,681,812-19,662,339 ESPNP, CROCC, 114 more genes
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