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Items: 1 to 20 of 92

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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
    nsv5877336copy number variation1nstd209human GRCh38 chrX: 66,606,311-66,613,685 , GRCh37.p13 chrX: 65,826,153-65,833,527 EDA2R
    nsv5562478sequence alteration1nstd206human GRCh38 chrX: 45,310,830-84,506,186 , GRCh37.p13 chrX: 45,170,075-83,761,194 , AR, 649 more genes
    nsv5428499copy number variation1nstd206human GRCh38 chrX: 66,590,963-66,594,245 , GRCh37.p13 chrX: 65,810,805-65,814,087 EDA2R
    nsv5426844copy number variation1nstd206human GRCh38 chrX: 66,548,026-66,714,200 , GRCh37.p13 chrX: 65,767,868-65,934,042 EDA2R, RNU6-394P
    nsv5426110copy number variation1nstd206human GRCh38 chrX: 66,609,917-66,611,026 , GRCh37.p13 chrX: 65,829,759-65,830,868 EDA2R
    nsv5416491copy number variation1nstd206human GRCh38 chrX: 39,941,083-72,578,519 , GRCh37.p13 chrX: 39,800,337-71,530,833 , USP51, 564 more genes
    nsv5335055translocation1nstd200human GRCh37 chrX: 65,850,308-65,850,308 , GRCh37 chrX: 65,850,556-65,850,556 , GRCh38.p12 chrX: 66,630,466-66,630,466 , GRCh38.p12 chrX: 66,630,714-66,630,714 EDA2R
    nsv5180932mobile element insertion1nstd203human GRCh38 chrX: 66,609,122-66,609,136 , GRCh37.p13 chrX: 65,828,964-65,828,978 EDA2R
    nsv5059979copy number variation1nstd102humanPathogenic GRCh37 chrX: 56,469,080-155,233,731 , GRCh38.p12 chrX: 56,442,647-156,004,066 VDAC1P1, LOC105373299, 1364 more genes
    nsv5030775inversion1nstd200human GRCh38 chrX: 23,472,124-121,561,941 , GRCh37.p13 chrX: 23,490,241-120,695,795 , GPR173, 1350 more genes
    nsv4909056copy number variation1nstd200human GRCh38 chrX: 65,710,543-68,026,703 , GRCh37.p13 chrX: 64,930,405-67,246,545 AR, NXTAR, 19 more genes
    nsv4905586copy number variation1nstd200human GRCh38 chrX: 66,323,347-66,970,188 , GRCh37.p13 chrX: 65,543,189-66,190,030 MTFR1P1, GPR165P, 4 more genes
    nsv4905585copy number variation1nstd200human GRCh38 chrX: 66,152,661-66,661,624 , GRCh37.p13 chrX: 65,372,503-65,881,466 GPR165P, EDA2R, 3 more genes
    nsv4787685copy number variation1nstd200human GRCh37 chrX: 65,785,103-65,836,998 , GRCh38.p12 chrX: 66,565,261-66,617,156 EDA2R
    nsv4769249copy number variation1nstd201human GRCh37 chrX: 61,728,816-155,233,846 , GRCh38.p12 chrX: 62,509,346-156,004,181 , ABCB7, 1364 more genes
    nsv4728722copy number variation1nstd102humanLikely benign GRCh37 chrX: 65,734,663-66,698,653 , GRCh38.p12 chrX: 66,514,821-67,478,811 LOC105373240, LOC100129144, 2 more genes
    nsv4728552copy number variation1nstd102humanLikely benign GRCh37 chrX: 65,255,929-65,894,285 , GRCh38.p12 chrX: 66,036,087-66,674,443 ATXN7L3P1, MTFR1P1, 7 more genes
    nsv4728499copy number variation1nstd102humanPathogenic GRCh37 chrX: 55,507,789-155,198,481 , GRCh38.p12 chrX: 55,481,356-155,968,816 GABRE, RN7SL325P, 1371 more genes
    nsv4684016inversion1nstd191human GRCh37.p13 chrX: 32,933,886-87,244,324 , GRCh38 chrX: 32,915,769-87,989,324 , ABCB7, 816 more genes
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