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Items: 1 to 20 of 277

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5978990inversion1nstd209human GRCh38 chr13: 19,387,175-24,442,537 , GRCh37.p13 chr13: 19,961,315-25,016,675 , PARP4, 111 more genes
    nsv5977970insertion1nstd209human GRCh38 chr13: 20,747,462-20,747,462 , GRCh37.p13 chr13: 21,321,601-21,321,601 RANP8, EEF1AKMT1
    nsv5969193inversion1nstd209human GRCh38 chr13: 19,344,229-24,542,503 , GRCh37.p13 chr13: 19,918,369-25,116,641 , PARP4, 117 more genes
    nsv5930119copy number variation1nstd209human GRCh38 chr13: 19,425,704-24,953,999 , GRCh37.p13 chr13: 19,999,844-25,528,137 , LOC105370102, 128 more genes
    nsv5864416copy number variation1nstd209human GRCh38 chr13: 20,737,646-20,738,645 , GRCh37.p13 chr13: 21,311,785-21,312,784 EEF1AKMT1
    nsv5858539copy number variation1nstd209human GRCh38 chr13: 20,752,653-20,754,452 , GRCh37.p13 chr13: 21,326,792-21,328,591 EEF1AKMT1
    nsv5564510copy number variation1nstd102humanPathogenic GRCh37 chr13: 19,053,605-115,108,528 , GRCh38.p12 chr13: 18,479,465-114,343,053 RN7SL272P, DIAPH3, 1333 more genes
    nsv5508633copy number variation1nstd206human GRCh38 chr13: 20,772,269-20,772,399 , GRCh37.p13 chr13: 21,346,408-21,346,538 EEF1AKMT1
    nsv5339421translocation1nstd200human GRCh37 chr13: 21,331,218-21,331,218 , GRCh37 chr13: 21,332,625-21,332,625 , GRCh38.p12 chr13: 20,757,079-20,757,079 , GRCh38.p12 chr13: 20,758,486-20,758,486 EEF1AKMT1
    nsv5337688translocation1nstd200human GRCh37 chr13: 21,348,136-21,348,136 , GRCh37 chr13: 21,348,251-21,348,251 , GRCh38.p12 chr13: 20,774,112-20,774,112 , GRCh38.p12 chr13: 20,773,997-20,773,997 EEF1AKMT1
    nsv5319306copy number variation1nstd204human GRCh38.p13 chr13: 20,748,099-20,755,170 , GRCh37.p13 chr13: 21,322,238-21,329,309 RANP8, EEF1AKMT1
    nsv5273332copy number variation1nstd204human GRCh38.p13 chr13: 20,747,552-20,754,802 , GRCh37.p13 chr13: 21,321,691-21,328,941 EEF1AKMT1, RANP8
    nsv5037324inversion1nstd200human GRCh38 chr13: 20,216,099-22,917,425 , GRCh37.p13 chr13: 20,790,238-23,491,564 , BASP1P1, 56 more genes
    nsv5031336inversion1nstd200human GRCh38 chr13: 20,360,614-20,775,544 , GRCh37.p13 chr13: 20,934,753-21,349,683 IFT88, LOC105370103, 8 more genes
    nsv4683415copy number variation1nstd102humanUncertain significance GRCh37 chr13: 20,716,100-21,398,980 , GRCh38.p12 chr13: 20,141,961-20,824,841 GJB6, EEF1AKMT1, 14 more genes
    nsv4675873copy number variation1nstd102humanUncertain significance GRCh37 chr13: 21,034,087-21,404,969 , GRCh38.p12 chr13: 20,459,948-20,830,830 EEF1AKMT1, RANP8, 7 more genes
    nsv4675550copy number variation1nstd102humanPathogenic GRCh37 chr13: 19,436,286-24,970,361 , GRCh38.p12 chr13: 18,862,146-24,396,223 MRPL57, TATDN2P3, 129 more genes
    nsv4675255copy number variation1nstd102humanPathogenic GRCh37 chr13: 20,668,070-23,029,230 , GRCh38.p12 chr13: 20,093,931-22,455,091 RPSAP54, SLC35E1P1, 52 more genes
    nsv4667340copy number variation1nstd186human GRCh37 chr13: 21,348,229-21,355,052 , GRCh38.p12 chr13: 20,774,090-20,780,913 EEF1AKMT1, XPO4
    nsv4610573copy number variation1nstd183human GRCh37 chr13: 21,348,229-21,355,052 , GRCh38.p12 chr13: 20,774,090-20,780,913 XPO4, EEF1AKMT1
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