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Items: 1 to 20 of 389

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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
    nsv5953397insertion1nstd209human GRCh38 chrX: 53,311,121-53,311,121 , GRCh37.p13 chrX: 53,340,302-53,340,302 , GRCh37.p13 chrX|NW_004070877.1: 3,024,236-3,024,236 IQSEC2
    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
    nsv5674166copy number variation1nstd102humanPathogenic GRCh37 chrX: 53,270,946-53,271,111 , GRCh38.p12 chrX: 53,241,764-53,241,929 IQSEC2
    nsv5674150copy number variation1nstd102humanLikely benign GRCh37 chrX: 53,349,605-53,350,321 , GRCh38.p12 chrX: 53,320,407-53,321,123 IQSEC2, RPSAP62
    nsv5673976copy number variation1nstd102humanLikely pathogenic GRCh37 chrX: 53,348,887-53,349,736 , GRCh38 chrX: 53,319,689-53,320,538 IQSEC2
    nsv5673901copy number variation1nstd102humanPathogenic GRCh38 chrX: 53,234,895-53,235,075 , GRCh37 chrX: 53,264,077-53,264,257 IQSEC2
    nsv5612561insertion1nstd207human GRCh38 chrX: 53,235,874-53,235,874 , GRCh37.p13 chrX|NW_004070877.1: 2,948,989-2,948,989 , GRCh37.p13 chrX: 53,265,056-53,265,056 IQSEC2
    nsv5562478sequence alteration1nstd206human GRCh38 chrX: 45,310,830-84,506,186 , GRCh37.p13 chrX: 45,170,075-83,761,194 , AR, 649 more genes
    nsv5536871insertion1nstd206human GRCh38 chrX: 53,248,084-53,248,095 , GRCh37.p13 chrX: 53,277,266-53,277,277 , GRCh37.p13 chrX|NW_004070877.1: 2,961,199-2,961,210 IQSEC2
    nsv5432441copy number variation1nstd206human GRCh38 chrX: 53,289,895-53,291,174 , GRCh37.p13 chrX|NW_004070877.1: 3,003,010-3,004,289 , GRCh37.p13 chrX: 53,319,077-53,320,356 IQSEC2
    nsv5428175copy number variation1nstd206human GRCh38 chrX: 53,307,035-53,307,453 , GRCh37.p13 chrX: 53,336,217-53,336,634 , GRCh37.p13 chrX|NW_004070877.1: 3,020,150-3,020,568 IQSEC2
    nsv5416491copy number variation1nstd206human GRCh38 chrX: 39,941,083-72,578,519 , GRCh37.p13 chrX: 39,800,337-71,530,833 , USP51, 564 more genes
    nsv5381670copy number variation1nstd102humanUncertain significance GRCh37 chrX: 53,349,605-53,410,184 , GRCh38.p12 chrX: 53,320,407-53,383,263 RPSAP62, IQSEC2, 2 more genes
    nsv5376231translocation1nstd200human GRCh38 chrX: 53,248,084-53,248,084 , GRCh38 chrX: 53,249,738-53,249,738 , GRCh37.p13 chrX: 53,277,266-53,277,266 , GRCh37.p13 chrX|NW_004070877.1: 2,961,199-2,961,199 , GRCh37.p13 chrX|NW_004070877.1: 2,962,853-2,962,853 , GRCh37.p13 chrX: 53,278,920-53,278,920 IQSEC2
    nsv5376230translocation1nstd200human GRCh38 chrX: 53,227,148-53,227,148 , GRCh38 chrX: 53,226,885-53,226,885 , GRCh37.p13 chrX|NW_004070877.1: 2,940,000-2,940,000 , GRCh37.p13 chrX|NW_004070877.1: 2,940,263-2,940,263 , GRCh37.p13 chrX: 53,256,067-53,256,067 , GRCh37.p13 chrX: 53,256,330-53,256,330 IQSEC2
    nsv5334852translocation1nstd200human GRCh37 chrX: 53,277,266-53,277,266 , GRCh37 chrX: 53,278,920-53,278,920 , GRCh38.p12 chrX: 53,248,084-53,248,084 , GRCh38.p12 chrX: 53,249,738-53,249,738 IQSEC2
    nsv5180981mobile element insertion1nstd203human GRCh38 chrX: 53,311,121-53,311,135 , GRCh37.p13 chrX: 53,340,302-53,340,333 , GRCh37.p13 chrX|NW_004070877.1: 3,024,236-3,024,250 IQSEC2
    nsv5059968copy number variation1nstd102humanPathogenic GRCh37 chrX: 168,546-56,457,794 , GRCh38.p12 chrX: 251,879-56,431,361 PAGE3, METTL15P3, 785 more genes
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