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Items: 1 to 20 of 316

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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
    nsv5882057copy number variation1nstd209human GRCh38 chrX: 52,862,950-55,652,570 , GRCh37.p13 chrX: 52,891,979-54,424,077 , GRCh37.p13 chrX|NW_004070877.1: 2,576,065-4,110,759 , MIRLET7F2, 64 more genes
    nsv5562478sequence alteration1nstd206human GRCh38 chrX: 45,310,830-84,506,186 , GRCh37.p13 chrX: 45,170,075-83,761,194 , AR, 649 more genes
    nsv5422003copy number variation1nstd206human GRCh38 chrX: 53,180,894-53,182,051 , GRCh37.p13 chrX: 53,210,076-53,211,233 , GRCh37.p13 chrX|NW_004070877.1: 2,894,009-2,895,166 KDM5C
    nsv5416491copy number variation1nstd206human GRCh38 chrX: 39,941,083-72,578,519 , GRCh37.p13 chrX: 39,800,337-71,530,833 , USP51, 564 more genes
    nsv5362334translocation1nstd200human GRCh38 chr5: 76,707,679-76,707,679 , GRCh38 chrX: 53,176,180-53,176,180 , GRCh37.p13 chrX|NW_004070877.1: 2,889,295-2,889,295 , GRCh37.p13 chrX: 53,205,362-53,205,362 , GRCh37.p13 chr5: 76,003,504-76,003,504 IQGAP2, KDM5C
    nsv5362333translocation1nstd200human GRCh38 chrX: 53,175,053-53,175,053 , GRCh38 chr5: 76,707,625-76,707,625 , GRCh37.p13 chr5: 76,003,450-76,003,450 , GRCh37.p13 chrX: 53,204,235-53,204,235 , GRCh37.p13 chrX|NW_004070877.1: 2,888,168-2,888,168 IQGAP2, KDM5C
    nsv5345151translocation1nstd200human GRCh37 chrX: 53,205,362-53,205,362 , GRCh37 chr5: 76,003,504-76,003,504 , GRCh38.p12 chrX: 53,176,180-53,176,180 , GRCh38.p12 chr5: 76,707,679-76,707,679 KDM5C, IQGAP2
    nsv5334263translocation1nstd200human GRCh37 chrX: 53,204,235-53,204,235 , GRCh37 chr5: 76,003,450-76,003,450 , GRCh38.p12 chr5: 76,707,625-76,707,625 , GRCh38.p12 chrX: 53,175,053-53,175,053 KDM5C, IQGAP2
    nsv5186876mobile element insertion1nstd203human GRCh38 chrX: 53,182,188-53,182,230 , GRCh37.p13 chrX|NW_004070877.1: 2,895,303-2,895,345 , GRCh37.p13 chrX: 53,211,370-53,211,412 KDM5C
    nsv5181671mobile element insertion1nstd203human GRCh38 chrX: 53,178,786-53,178,802 , GRCh37.p13 chrX: 53,207,968-53,207,984 , GRCh37.p13 chrX|NW_004070877.1: 2,891,901-2,891,917 KDM5C
    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
    nsv4905512copy number variation1nstd200human GRCh38 chrX: 53,181,751-53,187,853 , GRCh37.p13 chrX|NW_004070877.1: 2,894,866-2,900,968 , GRCh37.p13 chrX: 53,210,933-53,217,035 KDM5C
    nsv4779747copy number variation1nstd200human GRCh37 chrX: 53,213,546-53,213,664 , GRCh38.p12 chrX: 53,184,364-53,184,482 KDM5C
    nsv4769309copy number variation1nstd102humanPathogenic GRCh37 chrX: 52,923,471-53,765,589 , GRCh38.p12 chrX: 52,894,442-53,738,647 TSPYL2, SMC1A, 20 more genes
    nsv4728719copy number variation1nstd102humanPathogenic GRCh37 chrX: 53,188,785-54,049,698 , GRCh38.p12 chrX: 53,159,603-54,023,265 MIR6857, MIR6895, 16 more genes
    nsv4728662copy number variation1nstd102humanPathogenic GRCh37 chrX: 53,188,785-53,934,760 , GRCh38.p12 chrX: 53,159,603-53,908,342 KDM5C, MIR6857, 15 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
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