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Items: 1 to 20 of 302

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112707copy number variation1nstd102humanUncertain significance GRCh38 chr1: 6,234,122-6,508,845 , GRCh37.p13 chr1: 6,294,182-6,568,905 HES3, PLEKHG5, 8 more genes
    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
    nsv4685972copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 762,080-7,309,686 , GRCh38.p12 chr1: 826,700-7,249,626 CDK11B, DFFB, 184 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
    nsv4594612copy number variation1nstd183human GRCh37 chr1: 6,403,048-6,577,424 , GRCh38.p12 chr1: 6,342,988-6,517,364 TNFRSF25, ACOT7, 4 more genes
    nsv4581283copy number variation2nstd183human GRCh37 chr1: 6,478,143-6,520,845 , GRCh38.p12 chr1: 6,418,083-6,460,785 TNFRSF25, HES2, 2 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
    nsv4435992copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-7,637,060 , GRCh38.p12 chr1: 82,154-7,577,000 SNORD167, SEPTIN14P14, 222 more genes
    nsv4404942copy number variation1nstd174human GRCh37 chr1: 6,476,628-6,524,490 , GRCh38.p12 chr1: 6,416,568-6,464,430 MIR4252, TNFRSF25, 3 more genes
    nsv4397128copy number variation1nstd174human GRCh37 chr1: 6,403,036-6,592,004 , GRCh38.p12 chr1: 6,342,976-6,531,944 TNFRSF25, ACOT7, 5 more genes
    nsv4346900copy number variation1nstd102humanPathogenic GRCh37 chr1: 823,964-6,828,363 , GRCh38.p12 chr1: 888,584-6,768,303 GPR153, HES2, 175 more genes
    nsv3924689copy number variation1nstd102humanPathogenic NCBI36 chr1: 4,737-7,449,889 , GRCh37.p13 chr1: 14,874-7,527,302 , GRCh38.p12 chr1: 14,874-7,467,242 MIR6726, PLCH2, 230 more genes
    nsv3918952copy number variation1nstd102humanPathogenic NCBI36 chr1: 3,647,489-8,941,506 , GRCh37.p13 chr1: 3,657,629-9,018,919 , GRCh38.p12 chr1: 3,741,065-8,958,860 RPL27P3, RPL7P11, 86 more genes
    nsv3918821copy number variation1nstd102humanPathogenic NCBI36 chr1: 5,170,179-8,499,400 , GRCh37.p13 chr1: 5,270,319-8,576,813 , GRCh38.p12 chr1: 5,210,259-8,516,754 RERE, PHF13, 54 more genes
    nsv3914880copy number variation1nstd102humanPathogenic NCBI36 chr1: 875,241-6,557,592 , GRCh37.p13 chr1: 885,378-6,635,005 , GRCh38.p12 chr1: 949,998-6,574,945 RNU6-731P, KCNAB2, 164 more genes
    nsv3913374copy number variation1nstd102humanPathogenic NCBI36 chr1: 4,737-8,767,973 , GRCh37.p13 chr1: 14,874-8,845,386 , GRCh38.p12 chr1: 14,874-8,785,327 LOC105378593, TNFRSF9, 252 more genes
    nsv3909850copy number variation1nstd102humanPathogenic GRCh37 chr1: 846,680-9,389,984 , GRCh38 chr1: 911,300-9,329,925 , NCBI36 chr1: 836,543-9,312,571 LOC105378590, LOC112268261, 221 more genes
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