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Items: 1 to 20 of 540

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5829267copy number variation1nstd209human GRCh38 chr1: 2,390,968-2,398,287 , GRCh37.p13 chr1: 2,322,407-2,329,726 MORN1, RER1
    nsv5621639insertion1nstd207human GRCh38 chr1: 2,401,351-2,401,351 , GRCh37.p13 chr1: 2,332,790-2,332,790 RER1
    nsv5611141insertion1nstd207human GRCh38 chr1: 2,401,412-2,401,412 , GRCh37.p13 chr1: 2,332,851-2,332,851 RER1
    nsv5416539copy number variation1nstd206human GRCh38 chr1: 2,392,726-2,392,840 , GRCh37.p13 chr1: 2,324,165-2,324,279 RER1
    nsv5376855translocation1nstd200human GRCh38 chr9: 205,038-205,038 , GRCh38 chr1: 2,403,750-2,403,750 , GRCh37.p13 chr1: 2,335,189-2,335,189 , GRCh37.p13 chr9: 205,038-205,038 PEX10, RER1
    nsv5350643translocation1nstd200human GRCh38 chr1: 2,403,032-2,403,032 , GRCh38 chr1: 2,402,342-2,402,342 , GRCh37.p13 chr1: 2,333,781-2,333,781 , GRCh37.p13 chr1: 2,334,471-2,334,471 RER1, PEX10
    nsv5218353copy number variation1nstd204human GRCh38.p13 chr1: 1,841,001-2,652,000 , GRCh37.p13 chr1: 1,772,440-2,583,439 RER1, CALML6, 28 more genes
    nsv5202795copy number variation1nstd204human GRCh38.p13 chr1: 2,260,301-2,652,100 , GRCh37.p13 chr1: 2,191,740-2,583,539 PRXL2B, SKI, 13 more genes
    nsv4758787insertion1nstd199human GRCh37 chr1: 2,332,644-2,332,644 , GRCh38.p12 chr1: 2,401,205-2,401,205 RER1
    nsv4746162copy number variation1nstd199human GRCh37 chr1: 2,332,644-2,333,119 , GRCh38.p12 chr1: 2,401,205-2,401,680 RER1
    nsv4728187copy number variation1nstd102humanPathogenic GRCh37 chr1: 1-5,592,835 , GRCh38.p12 chr1: 10,001-5,532,775 UBE2J2, MRPL20, 196 more genes
    nsv4685972copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 762,080-7,309,686 , GRCh38.p12 chr1: 826,700-7,249,626 CDK11B, DFFB, 184 more genes
    nsv4685575copy number variation1nstd102humanPathogenic GRCh37 chr1: 1,670,720-3,816,863 , GRCh38.p12 chr1: 1,739,281-3,900,299 LOC105378593, LOC105378590, 65 more genes
    nsv4683478copy number variation1nstd102humanUncertain significance GRCh37 chr1: 955,543-3,350,385 , GRCh38.p12 chr1: 1,020,163-3,433,821 GNB1, PRKCZ, 105 more genes
    nsv4682824copy number variation1nstd102humanPathogenic GRCh37 chr1: 2,337,195-2,343,951 , GRCh38.p12 chr1: 2,405,756-2,412,512 PEX10, PLCH2, 1 more genes
    nsv4682777copy number variation1nstd102humanPathogenic GRCh37 chr1: 2,337,185-2,343,961 , GRCh38.p12 chr1: 2,405,746-2,412,522 PLCH2, PEX10, 1 more genes
    nsv4674646copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-3,349,513 , GRCh38.p12 chr1: 82,154-3,432,949 PRKCZ-AS1, PRKCZ, 156 more genes
    nsv4674611copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,466-4,829,059 , GRCh38.p12 chr1: 914,086-4,768,999 LOC100129534, MMP23B, 141 more genes
    nsv4674407copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,466-7,786,545 , GRCh38.p12 chr1: 914,086-7,726,485 MMP23B, RNF223, 183 more genes
    nsv4674384copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,466-5,625,566 , GRCh38.p12 chr1: 914,086-5,565,506 RN7SL574P, LOC112268219, 147 more genes
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