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Items: 1 to 20 of 21

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4685969copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 154,142,454-154,147,728 , GRCh38 chr1: 154,169,978-154,175,252 TPM3
    nsv3882194copy number variation1nstd102humanUncertain significance GRCh37 chr1: 154,163,642-154,164,514 , GRCh38 chr1: 154,191,166-154,192,038 TPM3, MIR190B
    nsv6310590copy number variation1nstd102humanUncertain significance GRCh37 chr1: 154,163,642-154,164,494 , GRCh38.p12 chr1: 154,191,166-154,192,018 TPM3, MIR190B
    nsv6310680copy number variation1nstd102humanUncertain significance GRCh37 chr1: 154,140,413-154,164,494 , GRCh38.p12 chr1: 154,167,937-154,192,018 TPM3, MIR190B
    nsv3912840copy number variation1nstd102humanPathogenic NCBI36 chr1: 144,764,751-247,199,719 , GRCh37.p13 chr1: 146,053,394-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 TPM3, CRB1, 1608 more genes
    nsv7095320copy number variation1nstd102humanPathogenic GRCh37 chr1: 153,963,273-154,580,482 , GRCh38.p12 chr1: 153,990,797-154,608,006 TPM3, RNU6-239P, 30 more genes
    nsv4346764copy number variation1nstd102humanPathogenic GRCh37 chr1: 153,701,504-154,218,584 , GRCh38.p12 chr1: 153,729,028-154,246,108 TPM3, GATAD2B, 23 more genes
    nsv3903470copy number variation1nstd102humanPathogenic GRCh38 chr1: 153,759,563-154,219,803 , NCBI36 chr1: 151,998,663-152,458,903 , GRCh37 chr1: 153,732,039-154,192,279 TPM3, RN7SL431P, 23 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 TPM3, MARK1, 4930 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 TPM3, SNAP47, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 TPM3, RNU1-153P, 4887 more genes
    nsv3918947copy number variation1nstd102humanPathogenic NCBI36 chr1: 144,475,856-247,199,719 , GRCh37.p13 chr1: 145,764,499-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 TPM3, LOC101060227, 1608 more genes
    nsv3900459copy number variation1nstd102humanPathogenic GRCh38 chr1: 149,854,269-180,267,197 , NCBI36 chr1: 148,092,455-178,502,955 , GRCh37 chr1: 149,825,831-180,236,332 TPM3, HORMAD1, 923 more genes
    nsv3877540copy number variation1nstd102humanPathogenic GRCh37 chr1: 150,853,044-154,647,786 , GRCh38.p12 chr1: 150,880,568-154,675,310 TPM3, LCE1F, 197 more genes
    nsv3917016copy number variation1nstd102humanPathogenic NCBI36 chr1: 152,220,775-155,340,341 , GRCh37.p13 chr1: 153,954,151-157,073,717 , GRCh38.p12 chr1: 153,981,675-157,103,925 TPM3, SMU1P1, 152 more genes
    nsv3870644copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 153,751,465-156,660,462 , GRCh38.p12 chr1: 153,778,989-156,690,670 TPM3, ADAR, 145 more genes
    nsv3909898inversion1nstd102humanLikely pathogenic GRCh38.p12 chr1: 154,158,509-156,874,085 , GRCh37 chr1: 154,130,985-156,843,877 TPM3, ADAR, 136 more genes
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 TPM3, DCST1, 2428 more genes
    nsv6310678copy number variation4nstd102humanUncertain significance GRCh37 chr1: 149,895,434-156,851,434 , GRCh38.p12 chr1: 149,923,542-156,881,642 TPM3, PRPF3, 352 more genes
    nsv6310523copy number variation1nstd102humanUncertain significance GRCh37 chr1: 154,141,761-156,851,434 , GRCh38.p12 chr1: 154,169,285-156,881,642 TPM3, MIR555, 135 more genes
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