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Items: 1 to 20 of 319

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112690copy number variation1nstd102humanPathogenic GRCh37 chrX: 60,000-155,234,966 , GRCh38.p12 chrX: 10,001-156,005,301 LOC105373176, ZFX-AS1, 2151 more genes
    nsv5424111copy number variation1nstd206human GRCh38 chrX: 20,118,618-20,136,341 , GRCh37.p13 chrX: 20,136,736-20,154,459 EIF1AX, SCARNA9L
    nsv5381747copy number variation5nstd102humanUncertain significance GRCh37 chrX: 17,393,881-20,284,750 , GRCh38.p12 chrX: 17,375,758-20,266,632 TMSB10P2, BLOC1S6P1, 37 more genes
    nsv5200361copy number variation1nstd102humanPathogenic GRCh37 chrX: 19,183,657-20,215,858 , GRCh38.p12 chrX: 19,165,539-20,197,740 EIF5P2, SH3KBP1, 10 more genes
    nsv5196442mobile element insertion1nstd203human GRCh38 chrX: 20,135,264-20,135,264 , GRCh37.p13 chrX: 20,153,382-20,153,382 EIF1AX, SCARNA9L
    nsv5059968copy number variation1nstd102humanPathogenic GRCh37 chrX: 168,546-56,457,794 , GRCh38.p12 chrX: 251,879-56,431,361 PAGE3, METTL15P3, 785 more genes
    nsv4905244copy number variation1nstd200human GRCh38 chrX: 20,118,618-20,136,341 , GRCh37.p13 chrX: 20,136,736-20,154,459 EIF1AX, SCARNA9L
    nsv4905243copy number variation1nstd200human GRCh38 chrX: 19,965,931-20,169,132 , GRCh37.p13 chrX: 19,984,049-20,187,250 EIF1AX, MIR23C, 6 more genes
    nsv4905242copy number variation1nstd200human GRCh38 chrX: 19,957,246-20,243,041 , GRCh37.p13 chrX: 19,975,364-20,261,159 EIF1AX, LOC729609, 6 more genes
    nsv4772532copy number variation1nstd200human GRCh37 chrX: 20,136,736-20,154,459 , GRCh38.p12 chrX: 20,118,618-20,136,341 SCARNA9L, EIF1AX
    nsv4772531copy number variation1nstd200human GRCh37 chrX: 19,984,049-20,187,250 , GRCh38.p12 chrX: 19,965,931-20,169,132 MIR23C, EIF1AX, 6 more genes
    nsv4769248copy number variation1nstd201human GRCh37 chrX: 168,546-21,870,371 , GRCh38.p12 chrX: 251,879-21,852,253 , AMELX, 248 more genes
    nsv4728625copy number variation1nstd102humanUncertain significance GRCh37 chrX: 20,007,752-20,498,564 , GRCh38.p12 chrX: 19,989,634-20,480,446 EIF1AX-AS1, EIF1AX, 7 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
    nsv4674655copy number variation1nstd102humanPathogenic GRCh37 chrX: 16,194,993-20,640,014 , GRCh38.p12 chrX: 16,176,870-20,621,896 LOC101928389, LOC729609, 54 more genes
    nsv4674615copy number variation1nstd102humanPathogenic GRCh37 chrX: 1,240,318-20,986,848 , GRCh38.p12 chrX: 1,140,165-20,968,730 RNA5SP499, GS1-600G8.3, 217 more genes
    nsv4674588copy number variation1nstd102humanPathogenic GRCh37 chrX: 539,722-55,509,385 , GRCh38.p12 chrX: 578,987-55,482,952 LOC392440, SSX4, 769 more genes
    nsv4674458copy number variation1nstd102humanPathogenic GRCh37 chrX: 168,546-34,753,512 , GRCh38.p12 chrX: 251,879-34,735,395 P2RY8, CA5BP1-CA5B, 344 more genes
    nsv4674282copy number variation1nstd102humanPathogenic GRCh37 chrX: 537,158-22,883,547 , GRCh38.p12 chrX: 576,423-22,865,430 NHS, EGFL6, 236 more genes
    nsv4630481copy number variation2nstd183human GRCh37 chrX: 20,143,675-20,146,485 , GRCh38.p12 chrX: 20,125,557-20,128,367 EIF1AX
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