U.S. flag

An official website of the United States government

Format
Items per page

Send to:

Choose Destination

Search results

Items: 17

    loading data ...

    Number of Variants: 17

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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 TRIM46, CRB1, 1608 more genes
    nsv3906070copy number variation1nstd102humanPathogenic NCBI36 chr1: 152,814,789-153,529,316 , GRCh37 chr1: 154,548,165-155,262,692 , GRCh38 chr1: 154,575,689-155,292,901 TRIM46, PBXIP1, 37 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 TRIM46, MARK1, 4930 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 TRIM46, SNAP47, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 TRIM46, 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 TRIM46, 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 TRIM46, HORMAD1, 923 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 TRIM46, SMU1P1, 152 more genes
    nsv3906950copy number variation1nstd102humanPathogenic GRCh38 chr1: 154,566,501-157,624,084 , NCBI36 chr1: 152,805,601-155,860,498 , GRCh37 chr1: 154,538,977-157,593,874 TRIM46, ARHGEF2-AS2, 131 more genes
    nsv3870644copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 153,751,465-156,660,462 , GRCh38.p12 chr1: 153,778,989-156,690,670 TRIM46, ADAR, 145 more genes
    nsv3909898inversion1nstd102humanLikely pathogenic GRCh38.p12 chr1: 154,158,509-156,874,085 , GRCh37 chr1: 154,130,985-156,843,877 TRIM46, 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 TRIM46, 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 TRIM46, 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 TRIM46, MIR555, 135 more genes
    nsv3892457copy number variation1nstd102humanUncertain significance GRCh38 chr1: 155,182,457-155,787,428 , GRCh37 chr1: 155,154,933-155,757,219 , NCBI36 chr1: 153,421,557-154,023,843 TRIM46, DAP3P1, 35 more genes
    nsv3890833copy number variation1nstd102humanUncertain significance NCBI36 chr1: 153,245,646-153,700,678 , GRCh37 chr1: 154,979,022-155,434,054 , GRCh38 chr1: 155,006,546-155,464,263 TRIM46, CLK2, 32 more genes
    nsv4673954copy number variation1nstd102humanUncertain significance GRCh37 chr1: 154,898,854-155,242,457 , GRCh38.p12 chr1: 154,926,378-155,272,666 TRIM46, GBA1LP, 31 more genes
    Format
    Items per page

    Send to:

    Choose Destination

    Supplemental Content

    Find related data

    Search details

    See more...

    Recent activity

    Support Center