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Items: 1 to 20 of 175

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5923742copy number variation1nstd209human GRCh38 chr12: 21,398,810-28,763,815 , GRCh37.p13 chr12: 21,551,744-28,916,748 , LOC105369710, 101 more genes
    nsv5916901copy number variation1nstd209human GRCh38 chr12: 21,398,719-28,763,765 , GRCh37.p13 chr12: 21,551,653-28,916,698 , LOC105369704, 101 more genes
    nsv5912980copy number variation1nstd209human GRCh38 chr12: 25,481,034-28,003,055 , GRCh37.p13 chr12: 25,633,968-28,155,988 , ITPR2-AS1, 36 more genes
    nsv5727953mobile element insertion1nstd211human GRCh38 chr12: 26,215,698-26,215,698 , GRCh37.p13 chr12: 26,368,631-26,368,631 ITPR2-AS1, SSPN
    nsv5715033mobile element insertion1nstd211human GRCh38 chr12: 26,214,893-26,214,893 , GRCh37.p13 chr12: 26,367,826-26,367,826 ITPR2-AS1, SSPN
    nsv5500265copy number variation1nstd206human GRCh38 chr12: 26,214,137-26,214,237 , GRCh37.p13 chr12: 26,367,070-26,367,170 SSPN, ITPR2-AS1
    nsv4981649copy number variation1nstd200human GRCh38 chr12: 26,219,889-26,224,801 , GRCh37.p13 chr12: 26,372,822-26,377,734 ITPR2-AS1, SSPN
    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
    nsv4715550copy number variation1nstd195human GRCh37 chr12: 26,238,751-26,369,351 , GRCh38.p12 chr12: 26,085,818-26,216,418 SSPN, BHLHE41, 1 more genes
    nsv4702631copy number variation1nstd195human GRCh38.p12 chr12: 26,218,518-26,358,018 , GRCh37 chr12: 26,371,451-26,510,951 ITPR2, SSPN, 4 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
    nsv4573294sequence alteration1nstd166human GRCh37.p13 chr12: 26,372,822-26,381,420 , GRCh38.p12 chr12: 26,219,889-26,228,487 SSPN, ITPR2-AS1
    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
    nsv4209331copy number variation1nstd166human GRCh37.p13 chr12: 26,367,070-26,367,170 , GRCh38.p12 chr12: 26,214,137-26,214,237 SSPN, ITPR2-AS1
    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
    nsv3920847inversion1nstd102humanUncertain significance GRCh38.p12 chr12: 26,217,318-53,967,754 , GRCh37 chr12: 26,370,251-54,361,538 , ASIC1, 491 more genes
    nsv3919005copy number variation1nstd102humanUncertain significance GRCh37 chr12: 26,355,515-26,873,664 , NCBI36 chr12: 26,246,782-26,764,931 , GRCh38 chr12: 26,202,582-26,720,731 ITPR2, LOC105369704, 5 more genes
    nsv3917950copy number variation1nstd102humanPathogenic NCBI36 chr12: 22,180,058-27,459,940 , GRCh37.p13 chr12: 22,288,791-27,568,673 , GRCh38.p12 chr12: 22,135,857-27,415,740 LOC105369698, FAM133GP, 60 more genes
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