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Items: 1 to 20 of 130

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5973346inversion1nstd209human GRCh38 chr12: 118,054,601-123,705,841 , GRCh37.p13 chr12: 118,492,406-124,190,388 , ACADS, 162 more genes
    nsv5945201copy number variation1nstd209human GRCh38 chr12: 122,756,579-122,756,632 , GRCh37.p13 chr12: 123,241,126-123,241,179 DENR
    nsv5650787insertion1nstd207human GRCh38 chr12: 122,769,259-122,769,259 , GRCh37.p13 chr12: 123,253,806-123,253,806 DENR
    nsv5305109copy number variation1nstd204human GRCh38.p13 chr12: 122,760,455-122,760,593 , GRCh37.p13 chr12: 123,245,002-123,245,140 DENR
    nsv4996133copy number variation1nstd200human GRCh38 chr12: 122,750,380-122,751,887 , GRCh37.p13 chr12: 123,234,927-123,236,434 DENR
    nsv4838083copy number variation1nstd200human GRCh37 chr12: 123,245,012-123,245,131 , GRCh38.p12 chr12: 122,760,465-122,760,584 DENR
    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
    nsv4503472mobile element insertion1nstd166human GRCh37.p13 chr12: 123,256,073-123,256,073 , GRCh38.p12 chr12: 122,771,526-122,771,526 DENR
    nsv4455692copy number variation1nstd102humanPathogenic GRCh37 chr12: 122,169,403-129,084,163 , GRCh38.p12 chr12: 121,731,497-128,599,618 LOC107987176, LRRC43, 147 more genes
    nsv4227366copy number variation1nstd166human GRCh37.p13 chr12: 123,253,793-123,253,871 , GRCh38.p12 chr12: 122,769,246-122,769,324 DENR
    nsv4226223copy number variation1nstd166human GRCh37.p13 chr12: 123,234,000-123,240,000 , GRCh38.p12 chr12: 122,749,453-122,755,453 DENR
    nsv4219583copy number variation1nstd166human GRCh37.p13 chr12: 123,243,600-123,254,100 , GRCh38.p12 chr12: 122,759,053-122,769,553 DENR
    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
    nsv3923612copy number variation1nstd102humanPathogenic GRCh38 chr12: 120,718,786-127,500,215 , GRCh37 chr12: 121,156,589-127,984,760 , NCBI36 chr12: 119,640,972-126,550,713 NCOR2, LOC105378258, 161 more genes
    nsv3923347copy number variation1nstd102humanPathogenic NCBI36 chr12: 119,619,858-132,289,149 , GRCh37 chr12: 121,135,475-133,779,076 , GRCh38 chr12: 120,697,672-133,202,490 LOC105370044, RNU6-1017P, 273 more genes
    nsv3920557copy number variation1nstd102humanPathogenic GRCh37 chr12: 118,603,264-133,758,908 , GRCh38 chr12: 118,165,459-133,182,322 , NCBI36 chr12: 117,087,647-132,268,981 TMED2, GCN1, 339 more genes
    nsv3917475copy number variation1nstd102humanUncertain significance NCBI36 chr12: 121,697,487-122,107,919 , GRCh38 chr12: 122,646,987-123,057,419 , GRCh37 chr12: 123,131,534-123,541,966 CCDC62, HCAR2, 12 more genes
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