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Items: 1 to 20 of 194

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5980132inversion1nstd209human GRCh38 chr12: 21,873,888-24,109,273 , GRCh37.p13 chr12: 22,026,822-24,262,207 , ST8SIA1, 19 more genes
    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
    nsv5698662mobile element insertion2nstd211human GRCh38 chr12: 22,063,681-22,063,681 , GRCh37.p13 chr12: 22,216,615-22,216,615 CMAS, LOC105369690
    nsv5694908mobile element insertion2nstd211human GRCh38 chr12: 22,045,463-22,045,463 , GRCh37.p13 chr12: 22,198,397-22,198,397 CMAS
    nsv5648443insertion1nstd207human GRCh38 chr12: 22,056,777-22,056,777 , GRCh37.p13 chr12: 22,209,711-22,209,711 CMAS
    nsv5427526mobile element insertion1nstd206human GRCh38 chr12: 22,045,463-22,045,477 , GRCh37.p13 chr12: 22,198,397-22,198,411 CMAS
    nsv5418095mobile element insertion1nstd206human GRCh38 chr12: 22,063,681-22,063,732 , GRCh37.p13 chr12: 22,216,615-22,216,666 LOC105369690, CMAS
    nsv5378339translocation1nstd200human GRCh38 chr12: 22,065,909-22,065,909 , GRCh38 chr6: 29,952,848-29,952,848 , GRCh37.p13 chr12: 22,218,843-22,218,843 , GRCh37.p13 chr6: 29,920,625-29,920,625 CMAS, LOC105369690
    nsv5190114mobile element insertion1nstd203human GRCh38 chr12: 22,056,668-22,056,682 , GRCh37.p13 chr12: 22,209,602-22,209,616 CMAS
    nsv5137020mobile element insertion1nstd203human GRCh38 chr12: 22,063,673-22,063,681 , GRCh37.p13 chr12: 22,216,607-22,216,615 LOC105369690, CMAS
    nsv5131262mobile element insertion1nstd203human GRCh38 chr12: 22,063,668-22,063,681 , GRCh37.p13 chr12: 22,216,602-22,216,615 LOC105369690, CMAS
    nsv4981537copy number variation1nstd200human GRCh38 chr12: 22,057,767-22,058,107 , GRCh37.p13 chr12: 22,210,701-22,211,041 CMAS
    nsv4981536copy number variation1nstd200human GRCh38 chr12: 22,053,713-22,072,049 , GRCh37.p13 chr12: 22,206,647-22,224,983 CMAS, LOC105369690
    nsv4981535copy number variation1nstd200human GRCh38 chr12: 22,051,562-22,053,110 , GRCh37.p13 chr12: 22,204,496-22,206,044 CMAS
    nsv4841822copy number variation1nstd200human GRCh37 chr12: 22,204,496-22,206,044 , GRCh38.p12 chr12: 22,051,562-22,053,110 CMAS
    nsv4840465copy number variation1nstd200human GRCh37 chr12: 22,210,701-22,211,041 , GRCh38.p12 chr12: 22,057,767-22,058,107 CMAS
    nsv4745270copy number variation1nstd199human GRCh37 chr12: 22,206,914-22,206,985 , GRCh38.p12 chr12: 22,053,980-22,054,051 CMAS
    nsv4729730copy number variation1nstd102humanPathogenic GRCh37 chr12: 21,582,333-24,920,271 , GRCh38.p12 chr12: 21,429,399-24,767,337 CMAS, ETNK1-DT, 34 more genes
    nsv4704446copy number variation1nstd195human GRCh37 chr12: 22,130,901-22,289,551 , GRCh38.p12 chr12: 21,977,967-22,136,617 CMAS, THEM4P1, 2 more genes
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