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Items: 1 to 20 of 546

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112685copy number variation1nstd102humannot provided GRCh37 chr1: 2,420,003-8,155,935 , GRCh38.p12 chr1: 2,488,564-8,095,875 LINC02780, C1orf174, 100 more genes
    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
    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
    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
    nsv4674348copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,466-6,002,955 , GRCh38.p12 chr1: 914,086-5,942,895 LOC105378602, TAS1R3, 149 more genes
    nsv4578242copy number variation1nstd102humanPathogenic GRCh37 chr1: 1,723,651-3,444,846 , GRCh38.p12 chr1: 1,792,212-3,528,282 LOC105378589, HES5, 47 more genes
    nsv4454457copy number variation1nstd102humanUncertain significance GRCh37 chr1: 955,543-2,957,600 , GRCh38.p12 chr1: 1,020,163-3,041,036 TTLL10, SKI, 97 more genes
    nsv4436680complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 973,858-24,379,779 , GRCh37 chr1: 909,238-24,706,269 ALPL, RERE, 636 more genes
    nsv4436631copy number variation1nstd102humanPathogenic GRCh37 chr1: 554,375-9,779,842 , GRCh38.p12 chr1: 618,995-9,719,784 LINC02606, SCNN1D, 253 more genes
    nsv4436526complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 973,858-16,409,637 , GRCh37 chr1: 909,238-16,736,132 RERE, CA6, 415 more genes
    nsv4436105copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-11,784,118 , GRCh38.p12 chr1: 82,154-11,724,061 PARK7, RNF223, 325 more genes
    nsv4435996copy number variation1nstd102humanPathogenic GRCh37 chr1: 2,261,222-5,304,873 , GRCh38.p12 chr1: 2,329,783-5,244,813 LOC100420339, LINC02782, 58 more genes
    nsv4435992copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-7,637,060 , GRCh38.p12 chr1: 82,154-7,577,000 SNORD167, SEPTIN14P14, 222 more genes
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