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Items: 1 to 20 of 312

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6128353insertion1nstd186human GRCh37 chrX: 49,037,915-49,037,915 , GRCh38.p12 chrX: 49,181,565-49,181,565 PRICKLE3
    nsv6112721copy number variation1nstd102humanPathogenic GRCh37 chrX: 47,179,068-54,424,785 , GRCh38.p12 chrX: 47,319,669-54,398,352 SNORA11E, SSX11P, 229 more genes
    nsv6112690copy number variation1nstd102humanPathogenic GRCh37 chrX: 60,000-155,234,966 , GRCh38.p12 chrX: 10,001-156,005,301 LOC105373176, ZFX-AS1, 2151 more genes
    nsv5877274copy number variation1nstd209human GRCh38 chrX: 48,251,965-52,619,725 , GRCh37.p13 chrX|NW_004070877.1: 1-2,332,840 PLP2, SSXP8, 146 more genes
    nsv5623051insertion1nstd207human GRCh38 chrX: 49,184,141-49,184,141 , GRCh37.p13 chrX|NW_004070880.2: 1,423,570-1,423,570 , GRCh37.p13 chrX: 49,040,594-49,040,594 PRICKLE3
    nsv5614963insertion1nstd207human GRCh38 chrX: 49,181,565-49,181,565 , GRCh37.p13 chrX|NW_004070880.2: 1,420,994-1,420,994 , GRCh37.p13 chrX: 49,037,915-49,037,915 PRICKLE3
    nsv5562478sequence alteration1nstd206human GRCh38 chrX: 45,310,830-84,506,186 , GRCh37.p13 chrX: 45,170,075-83,761,194 , AR, 649 more genes
    nsv5544323insertion1nstd206human GRCh38 chrX: 49,181,565-49,181,565 , GRCh37.p13 chrX|NW_004070880.2: 1,420,994-1,420,994 , GRCh37.p13 chrX: 49,037,915-49,037,915 PRICKLE3
    nsv5416491copy number variation1nstd206human GRCh38 chrX: 39,941,083-72,578,519 , GRCh37.p13 chrX: 39,800,337-71,530,833 , USP51, 564 more genes
    nsv5381751copy number variation2nstd102humanUncertain significance GRCh37 chrX: 48,382,160-49,856,876 , GRCh38.p12 chrX: 48,523,772-50,092,219 EBP, MIR500A, 71 more genes
    nsv5059968copy number variation1nstd102humanPathogenic GRCh37 chrX: 168,546-56,457,794 , GRCh38.p12 chrX: 251,879-56,431,361 PAGE3, METTL15P3, 785 more genes
    nsv5030775inversion1nstd200human GRCh38 chrX: 23,472,124-121,561,941 , GRCh37.p13 chrX: 23,490,241-120,695,795 , GPR173, 1350 more genes
    nsv4905486copy number variation1nstd200human GRCh38 chrX: 49,174,903-49,175,301 , GRCh37.p13 chrX|NW_004070880.2: 1,414,332-1,414,730 , GRCh37.p13 chrX: 49,031,252-49,031,650 PLP2, PRICKLE3
    nsv4781998copy number variation1nstd200human GRCh37 chrX: 49,039,185-49,046,800 , GRCh38.p12 chrX: 49,182,730-49,190,347 PRICKLE3, SYP
    nsv4779696copy number variation1nstd200human GRCh37 chrX: 49,041,897-49,041,984 , GRCh38.p12 chrX: 49,185,444-49,185,531 PRICKLE3
    nsv4728653copy number variation1nstd102humanPathogenic GRCh37 chrX: 48,102,202-52,685,635 , GRCh38.p12 chrX: 48,242,767-52,656,585 CCNB3, AKAP4, 150 more genes
    nsv4728486copy number variation1nstd102humanPathogenic GRCh37 chrX: 219,609-55,466,476 , GRCh38.p12 chrX: 302,942-55,440,043 CDK16, WASF4P, 772 more genes
    nsv4728228copy number variation1nstd102humanPathogenic GRCh37 chrX: 48,178,413-52,686,510 , GRCh38.p12 chrX: 48,318,978-52,657,460 MRPL32P1, LOC100421603, 142 more genes
    nsv4684016inversion1nstd191human GRCh37.p13 chrX: 32,933,886-87,244,324 , GRCh38 chrX: 32,915,769-87,989,324 , ABCB7, 816 more genes
    nsv4680157copy number variation1nstd189human GRCh37.p13 chrX: 48,059,259-52,748,576 , GRCh38.p12 chrX: 48,199,823-52,719,527 CACNA1F, CLCN5, 157 more genes
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