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Items: 1 to 20 of 323

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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
    nsv5972942copy number variation1nstd209human GRCh38 chrX: 14,015,817-14,028,245 , GRCh37.p13 chrX: 14,033,936-14,046,364 GEMIN8
    nsv5718418mobile element insertion2nstd211human GRCh38 chrX: 14,004,157-14,004,157 , GRCh37.p13 chrX: 14,022,276-14,022,276 GEMIN8
    nsv5556179mobile element insertion1nstd206human GRCh38 chrX: 14,004,157-14,004,208 , GRCh37.p13 chrX: 14,022,276-14,022,327 GEMIN8
    nsv5429386copy number variation1nstd206human GRCh38 chrX: 13,931,000-14,557,488 , GRCh37.p13 chrX: 13,949,119-14,575,610 , GLRA2, 4 more genes
    nsv5417713copy number variation1nstd206human GRCh38 chrX: 13,809,400-14,085,488 , GRCh37.p13 chrX: 13,827,519-14,103,607 , GPM6B, 1 more genes
    nsv5182886mobile element insertion1nstd203human GRCh38 chrX: 14,004,138-14,004,157 , GRCh37.p13 chrX: 14,022,257-14,022,276 GEMIN8
    nsv5059968copy number variation1nstd102humanPathogenic GRCh37 chrX: 168,546-56,457,794 , GRCh38.p12 chrX: 251,879-56,431,361 PAGE3, METTL15P3, 785 more genes
    nsv4779133copy number variation1nstd200human GRCh37 chrX: 14,027,361-14,027,472 , GRCh38.p12 chrX: 14,009,242-14,009,353 GEMIN8
    nsv4772516copy number variation1nstd200human GRCh37 chrX: 14,022,727-14,024,303 , GRCh38.p12 chrX: 14,004,608-14,006,184 GEMIN8
    nsv4769248copy number variation1nstd201human GRCh37 chrX: 168,546-21,870,371 , GRCh38.p12 chrX: 251,879-21,852,253 , AMELX, 248 more genes
    nsv4728507copy number variation1nstd102humanLikely pathogenic GRCh37 chrX: 10,478,359-15,357,092 , GRCh38.p12 chrX: 10,510,319-15,338,970 AMELX, ARHGAP6, 49 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
    nsv4674815copy number variation1nstd102humanPathogenic GRCh37 chrX: 168,546-17,502,124 , GRCh38.p12 chrX: 251,879-17,484,001 PTMAP14, LOC100132857, 189 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
    nsv4576715mobile element insertion1nstd166human GRCh37.p13 chrX: 14,022,258-14,022,258 , GRCh38.p12 chrX: 14,004,139-14,004,139 GEMIN8
    nsv4454842copy number variation1nstd102humanPathogenic GRCh37 chrX: 2,190,434-23,795,839 , GRCh38.p12 chrX: 2,272,393-23,777,722 MBTPS2, LOC101928389, 224 more genes
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