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Items: 1 to 20 of 104

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7074641inversion1nstd229human GRCh38 chr12: 52,659,002-59,632,575 , GRCh37.p13 chr12: 53,052,786-60,026,356 , LOC105369777, 292 more genes
    nsv7069901inversion1nstd229human GRCh38 chr12: 51,176,082-54,825,440 , GRCh37.p13 chr12: 51,569,865-55,219,224 , HOXC5, 158 more genes
    nsv6936233copy number variation1nstd229human GRCh38 chr12: 54,336,983-54,340,161 , GRCh37.p13 chr12: 54,730,767-54,733,945 COPZ1, MIR148B
    nsv6595080inversion1nstd223human GRCh38 chr12: 54,334,416-54,335,695 , GRCh37.p13 chr12: 54,728,200-54,729,479 MIR148B, COPZ1
    nsv6469192copy number variation1nstd223human GRCh38 chr12: 54,336,265-54,336,810 , GRCh37.p13 chr12: 54,730,049-54,730,594 COPZ1, MIR148B
    nsv6143026copy number variation1nstd206human GRCh38 chr12: 48,500,915-111,724,058 , GRCh37.p13 chr12: 48,894,698-112,161,862 , LINC00592, 1206 more genes
    nsv6132426copy number variation1nstd213human GRCh37 chr12: 52,740,000-55,260,001 , GRCh38.p12 chr12: 52,346,216-54,866,217 , HOXC4, 122 more genes
    nsv5850046copy number variation1nstd209human GRCh38 chr12: 54,334,694-54,336,693 , GRCh37.p13 chr12: 54,728,478-54,730,477 MIR148B, COPZ1
    nsv5513905copy number variation1nstd206human GRCh38 chr12: 54,280,128-54,356,128 , GRCh37.p13 chr12: 54,673,912-54,749,912 HNRNPA1, NFE2, 6 more genes
    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
    nsv4985622copy number variation1nstd200human GRCh38 chr12: 54,309,006-54,406,625 , GRCh37.p13 chr12: 54,702,790-54,800,409 ITGA5, RNU6-950P, 6 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
    nsv4559196inversion1nstd166human GRCh37.p13 chr12: 51,569,865-55,219,228 , GRCh38.p12 chr12: 51,176,082-54,825,444 , EIF4B, 163 more genes
    nsv4436658copy number variation1nstd102humanPathogenic GRCh37 chr12: 53,784,698-54,741,363 , GRCh38.p12 chr12: 53,390,914-54,347,579 , CALCOCO1, 53 more genes
    nsv4324772inversion1nstd166human GRCh37.p13 chr12: 27,368,635-91,765,744 , GRCh38.p12 chr12: 27,215,702-91,371,967 , ATP2B1, 1101 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
    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
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