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Items: 1 to 20 of 140

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5944336copy number variation1nstd209human GRCh38 chr12: 54,555,234-54,555,327 , GRCh37.p13 chr12: 54,949,018-54,949,111 PDE1B
    nsv5355941translocation1nstd200human GRCh38 chr12: 54,576,822-54,576,822 , GRCh38 chr12: 54,576,732-54,576,732 , GRCh37.p13 chr12: 54,970,606-54,970,606 , GRCh37.p13 chr12: 54,970,516-54,970,516 PDE1B
    nsv5183224mobile element insertion1nstd203human GRCh38 chr12: 54,555,399-54,555,415 , GRCh37.p13 chr12: 54,949,183-54,949,199 PDE1B
    nsv5040224inversion1nstd200human GRCh38 chr12: 47,213,128-71,357,206 , GRCh37.p13 chr12: 47,606,911-71,750,986 , NR4A1, 686 more genes
    nsv5036282inversion1nstd200human GRCh38 chr12: 52,338,357-95,425,642 , GRCh37.p13 chr12: 52,732,141-95,819,418 , MIR6502, 769 more genes
    nsv4883504inversion1nstd200human GRCh37 chr12: 52,732,141-95,819,418 , GRCh38.p12 chr12: 52,338,357-95,425,642 , MYL6B, 769 more genes
    nsv4755205inversion1nstd199human GRCh37 chr12: 25,956,127-125,801,151 , GRCh38.p12 chr12: 25,803,193-125,316,605 , ACACB, 1787 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
    nsv4563141mobile element insertion1nstd166human GRCh37.p13 chr12: 54,949,183-54,949,183 , GRCh38.p12 chr12: 54,555,399-54,555,399 PDE1B
    nsv4559196inversion1nstd166human GRCh37.p13 chr12: 51,569,865-55,219,228 , GRCh38.p12 chr12: 51,176,082-54,825,444 , EIF4B, 163 more genes
    nsv4498444mobile element insertion1nstd166human GRCh37.p13 chr12: 54,950,549-54,950,549 , GRCh38.p12 chr12: 54,556,765-54,556,765 PDE1B
    nsv4324772inversion1nstd166human GRCh37.p13 chr12: 27,368,635-91,765,744 , GRCh38.p12 chr12: 27,215,702-91,371,967 , ATP2B1, 1101 more genes
    nsv3965072copy number variation1nstd168human GRCh38 chr12: 54,555,815-54,562,261 , GRCh37.p13 chr12: 54,949,599-54,956,045 PDE1B
    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
    nsv3910529copy number variation1nstd102humanPathogenic NCBI36 chr12: 52,100,657-54,882,993 , GRCh38 chr12: 53,420,606-56,202,942 , GRCh37 chr12: 53,814,390-56,596,726 , OR6C72P, 140 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
    nsv3897722copy number variation1nstd102humanPathogenic GRCh37 chr12: 191,619-133,777,645 , GRCh38.p12 chr12: 82,453-133,201,059 , RNU4ATAC16P, 2452 more genes
    nsv3169098inversion1nstd158human GRCh37 chr12: 28,095,967-121,612,723 , GRCh38.p12 chr12: 27,943,034-121,174,920 , ACACB, 1642 more genes
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