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Items: 1 to 20 of 122

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5323122inversion1nstd204human GRCh37.p13 chr12: 6,338,815-22,046,498 , GRCh38.p13 chr12: 6,229,649-21,893,564 , A2M, 414 more genes
    nsv5120651mobile element insertion1nstd203human GRCh38 chr12: 18,737,063-18,737,078 , GRCh37.p13 chr12: 18,889,997-18,890,012 CAPZA3, PLCZ1
    nsv4882300inversion1nstd200human GRCh37 chr12: 6,338,820-22,046,498 , GRCh38.p12 chr12: 6,229,654-21,893,564 , LOC105369686, 414 more genes
    nsv4674941copy number variation1nstd102humanPathogenic GRCh37 chr12: 274,676-37,869,301 , GRCh38.p12 chr12: 165,510-37,475,499 LOC105376675, ATF7IP, 682 more genes
    nsv4456793copy number variation1nstd102humanPathogenic GRCh37 chr12: 16,141,429-27,733,325 , GRCh38.p12 chr12: 15,988,495-27,580,392 PDE3A, ETFRF1, 133 more genes
    nsv4455458copy number variation1nstd102humanPathogenic GRCh37 chr12: 173,786-34,496,628 , GRCh38.p12 chr12: 64,620-34,343,693 EMP1, PLBD1-AS1, 684 more genes
    nsv4324171inversion1nstd166human GRCh37.p13 chr12: 6,338,819-22,046,498 , GRCh38.p12 chr12: 6,229,653-21,893,564 , APOBEC1, 414 more genes
    nsv4208837copy number variation1nstd166human GRCh37.p13 chr12: 18,868,441-18,905,177 , GRCh38.p12 chr12: 18,715,507-18,752,243 PIK3C2G, CAPZA3, 2 more genes
    nsv3924262copy number variation1nstd102humanPathogenic GRCh37 chr12: 173,786-34,835,837 , GRCh38 chr12: 64,620-34,682,902 , NCBI36 chr12: 44,047-34,727,104 ENO2, SLC6A13, 684 more genes
    nsv3918302copy number variation1nstd102humanPathogenic GRCh38 chr12: 80,412-25,470,329 , GRCh37 chr12: 282,465-25,623,263 , NCBI36 chr12: 59,839-25,514,530 MIR3974, RPL13P5, 558 more genes
    nsv3917488copy number variation1nstd102humanPathogenic NCBI36 chr12: 192,403-33,971,115 , GRCh37 chr12: 322,142-34,079,848 , GRCh38 chr12: 212,976-33,926,913 LOC374443, LINC00937, 674 more genes
    nsv3916538copy number variation1nstd102humanPathogenic GRCh38 chr12: 77,187-34,380,176 , GRCh37 chr12: 282,465-34,533,111 , NCBI36 chr12: 56,614-34,424,378 A2M, DSTNP2, 684 more genes
    nsv3916135copy number variation1nstd102humanPathogenic GRCh38 chr12: 121,271-34,603,261 , NCBI36 chr12: 100,698-34,647,463 , GRCh37 chr12: 282,465-34,756,196 TAS2R7, RPL7P6, 683 more genes
    nsv3914427copy number variation1nstd102humanPathogenic NCBI36 chr12: 18,636-36,150,744 , GRCh37.p13 chr12: 148,375-37,864,477 , GRCh38.p12 chr12: 43,334-37,470,675 LOC105369667, ELOCP31, 684 more genes
    nsv3914327copy number variation1nstd102humanPathogenic GRCh37 chr12: 15,993,788-22,174,586 , GRCh38 chr12: 15,840,854-22,021,652 , NCBI36 chr12: 15,885,055-22,065,853 LOC105369689, LMO3, 69 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
    nsv3914149copy number variation1nstd102humanPathogenic GRCh38 chr12: 121,255-34,603,274 , NCBI36 chr12: 100,682-34,647,476 , GRCh37 chr12: 282,465-34,756,209 PSMC1P8, RPLP2P4, 683 more genes
    nsv3912703copy number variation1nstd102humanPathogenic NCBI36 chr12: 1,237,701-20,701,778 , GRCh38 chr12: 1,258,274-20,657,577 , GRCh37 chr12: 1,367,440-20,810,511 LOC105369658, CD69, 477 more genes
    nsv3911928copy number variation1nstd102humanPathogenic GRCh37 chr12: 282,465-34,761,006 , GRCh38 chr12: 54,427-34,608,071 , NCBI36 chr12: 33,854-34,652,273 IFT57P1, RECQL, 684 more genes
    nsv3907734copy number variation1nstd102humanPathogenic GRCh37 chr12: 189,578-34,756,150 , GRCh38.p12 chr12: 80,412-34,603,215 ACRBP, LOC645485, 684 more genes
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