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Items: 1 to 20 of 91

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4993726copy number variation1nstd200human GRCh38 chr12: 117,206,843-117,314,802 , GRCh37.p13 chr12: 117,644,648-117,752,607 NOS1, ELOCP32
    nsv4756208inversion1nstd199human GRCh37 chr12: 104,359,633-125,801,147 , GRCh38.p12 chr12: 103,965,855-125,316,601 , ACACB, 453 more genes
    nsv4755205inversion1nstd199human GRCh37 chr12: 25,956,127-125,801,151 , GRCh38.p12 chr12: 25,803,193-125,316,605 , ACACB, 1787 more genes
    nsv4754840inversion1nstd199human GRCh37 chr12: 104,382,539-125,801,164 , GRCh38.p12 chr12: 103,988,761-125,316,618 , ACACB, 452 more genes
    nsv4736781copy number variation1nstd199human GRCh37 chr12: 25,957,322-125,801,148 , GRCh38.p12 chr12: 25,804,388-125,316,602 , RNA5SP368, 1787 more genes
    nsv4729662copy number variation1nstd102humanUncertain significance GRCh37 chr12: 117,327,155-117,693,543 , GRCh38.p12 chr12: 116,889,350-117,255,738 FBXW8, LOC105370010, 7 more genes
    nsv4675105copy number variation1nstd102humanUncertain significance GRCh37 chr12: 117,147,027-117,705,774 , GRCh38.p12 chr12: 116,709,222-117,267,969 ELOCP32, LOC105370010, 12 more genes
    nsv4674960copy number variation1nstd102humanUncertain significance GRCh37 chr12: 116,416,809-117,740,952 , GRCh38.p12 chr12: 115,979,004-117,303,147 LINC02457, MAP1LC3B2, 23 more genes
    nsv4455993copy number variation1nstd102humanUncertain significance GRCh37 chr12: 117,649,360-117,748,037 , GRCh38.p12 chr12: 117,211,555-117,310,232 NOS1, ELOCP32
    nsv4455668copy number variation1nstd102humanUncertain significance GRCh37 chr12: 116,718,607-119,728,623 , GRCh38.p12 chr12: 116,280,802-119,290,818 LINC00934, LOC105370019, 53 more genes
    nsv3924220copy number variation1nstd102humanPathogenic GRCh38 chr12: 115,131,583-133,166,920 , NCBI36 chr12: 114,053,771-132,253,579 , GRCh37 chr12: 115,569,388-133,743,506 LOC105370080, LINC02985, 376 more genes
    nsv3916921copy number variation1nstd102humanUncertain significance GRCh37 chr12: 116,466,743-117,737,905 , GRCh38 chr12: 116,028,938-117,300,100 , NCBI36 chr12: 114,951,126-116,222,288 LINC00173, FBXW8, 23 more genes
    nsv3914194copy number variation1nstd102humanPathogenic NCBI36 chr12: 100,698-132,283,466 , GRCh37 chr12: 282,465-133,773,393 , GRCh38 chr12: 121,271-133,196,807 , BTG1P1, 2451 more genes
    nsv3913894copy number variation1nstd102humanPathogenic NCBI36 chr12: 113,190,591-132,287,975 , GRCh38 chr12: 114,268,403-133,201,316 , GRCh37 chr12: 114,706,208-133,777,902 TAOK3, LINC02405, 386 more genes
    nsv3905447copy number variation2nstd102humanPathogenic GRCh37 chr12: 173,787-133,777,902 , GRCh38.p12 chr12: 64,621-133,201,316 , LOH12CR2, 2452 more genes
    nsv3904719copy number variation1nstd102humanPathogenic GRCh37 chr12: 621,220-133,779,118 , GRCh38.p12 chr12: 512,054-133,202,532 , OR5BT1P, 2441 more genes
    nsv3904242copy number variation1nstd102humanPathogenic GRCh37 chr12: 1-133,851,895 , GRCh38.p12 chr12: 45,740-133,265,309 , RNA5SP369, 2454 more genes
    nsv3900158copy number variation1nstd102humanUncertain significance GRCh37 chr12: 117,104,335-118,209,153 , GRCh38.p12 chr12: 116,666,530-117,771,348 HRK, SPRING1, 14 more genes
    nsv3898298copy number variation1nstd102humanPathogenic GRCh37 chr12: 116,028,864-118,791,808 , GRCh38.p12 chr12: 115,591,059-118,354,003 LOC101928274, MIR4472-2, 38 more genes
    nsv3897722copy number variation1nstd102humanPathogenic GRCh37 chr12: 191,619-133,777,645 , GRCh38.p12 chr12: 82,453-133,201,059 , RNU4ATAC16P, 2452 more genes
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