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Items: 1 to 20 of 311

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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
    nsv5881226copy number variation1nstd209human GRCh38 chrX: 13,317,904-13,319,132 , GRCh37.p13 chrX: 13,336,023-13,337,251 ATXN3L, GS1-600G8.3
    nsv5875067copy number variation1nstd209human GRCh38 chrX: 13,311,700-13,311,844 , GRCh37.p13 chrX: 13,329,819-13,329,963 GS1-600G8.3
    nsv5431485copy number variation1nstd206human GRCh38 chrX: 13,025,843-13,560,513 , GRCh37.p13 chrX: 13,043,962-13,578,632 , FAM9C, 8 more genes
    nsv5366423translocation1nstd200human GRCh38 chrX: 13,319,139-13,319,139 , GRCh38 chrX: 13,317,904-13,317,904 , GRCh37.p13 chrX: 13,336,023-13,336,023 , GRCh37.p13 chrX: 13,337,258-13,337,258 ATXN3L, GS1-600G8.3
    nsv5059968copy number variation1nstd102humanPathogenic GRCh37 chrX: 168,546-56,457,794 , GRCh38.p12 chrX: 251,879-56,431,361 PAGE3, METTL15P3, 785 more genes
    nsv4905202copy number variation1nstd200human GRCh38 chrX: 13,070,979-13,598,022 , GRCh37.p13 chrX: 13,089,098-13,616,141 , LOC105373134, 11 more genes
    nsv4779120copy number variation1nstd200human GRCh37 chrX: 13,336,023-13,337,258 , GRCh38.p12 chrX: 13,317,904-13,319,139 ATXN3L, GS1-600G8.3
    nsv4779119copy number variation1nstd200human GRCh37 chrX: 13,331,338-13,347,850 , GRCh38.p12 chrX: 13,313,219-13,329,731 GS1-600G8.3, ATXN3L
    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
    nsv4673956copy number variation1nstd102humanUncertain significance GRCh37 chrX: 13,133,660-13,638,159 , GRCh38.p12 chrX: 13,115,541-13,620,040 GPX1P1, GS1-600G8.3, 8 more genes
    nsv4577742mobile element insertion1nstd166human GRCh37.p13 chrX: 13,326,879-13,326,879 , GRCh38.p12 chrX: 13,308,760-13,308,760 GS1-600G8.3
    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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