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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
    nsv5725778mobile element insertion1nstd211human GRCh38 chr12: 21,502,396-21,502,396 , GRCh37.p13 chr12: 21,655,330-21,655,330 GOLT1B
    nsv5708390mobile element insertion1nstd211human GRCh38 chr12: 21,514,311-21,514,311 , GRCh37.p13 chr12: 21,667,245-21,667,245 GOLT1B
    nsv5423225mobile element insertion1nstd206human GRCh38 chr12: 21,514,311-21,514,362 , GRCh37.p13 chr12: 21,667,245-21,667,296 GOLT1B
    nsv5323122inversion1nstd204human GRCh37.p13 chr12: 6,338,815-22,046,498 , GRCh38.p13 chr12: 6,229,649-21,893,564 , A2M, 414 more genes
    nsv5315935copy number variation1nstd204human GRCh38.p13 chr12: 21,518,079-21,588,622 , GRCh37.p13 chr12: 21,671,013-21,741,556 GOLT1B, GYS2, 1 more genes
    nsv5311527copy number variation1nstd204human GRCh38.p13 chr12: 21,516,517-21,516,598 , GRCh37.p13 chr12: 21,669,451-21,669,532 GOLT1B
    nsv5278960copy number variation1nstd204human GRCh38.p13 chr12: 21,518,078-21,526,839 , GRCh37.p13 chr12: 21,671,012-21,679,773 GOLT1B, SPX
    nsv5272060copy number variation1nstd204human GRCh38.p13 chr12: 21,518,101-21,587,000 , GRCh37.p13 chr12: 21,671,035-21,739,934 SPX, GOLT1B, 1 more genes
    nsv5120427mobile element insertion1nstd203human GRCh38 chr12: 21,516,241-21,516,255 , GRCh37.p13 chr12: 21,669,175-21,669,189 GOLT1B
    nsv4981521copy number variation1nstd200human GRCh38 chr12: 21,511,132-21,511,193 , GRCh37.p13 chr12: 21,664,066-21,664,127 GOLT1B
    nsv4974425copy number variation1nstd200human GRCh38 chr12: 21,518,083-21,588,619 , GRCh37.p13 chr12: 21,671,017-21,741,553 GYS2, SPX, 1 more genes
    nsv4882300inversion1nstd200human GRCh37 chr12: 6,338,820-22,046,498 , GRCh38.p12 chr12: 6,229,654-21,893,564 , LOC105369686, 414 more genes
    nsv4834526copy number variation1nstd200human GRCh37 chr12: 21,671,017-21,741,553 , GRCh38.p12 chr12: 21,518,083-21,588,619 SPX, GOLT1B, 1 more genes
    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
    nsv4682527copy number variation1nstd102humanUncertain significance GRCh37 chr12: 21,283,322-21,652,504 , GRCh38.p12 chr12: 21,130,388-21,499,570 IAPP, PYROXD1, 5 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
    nsv4616373copy number variation1nstd183human GRCh37 chr12: 21,659,856-21,661,653 , GRCh38.p12 chr12: 21,506,922-21,508,719 GOLT1B
    nsv4612023copy number variation1nstd183human GRCh37 chr12: 21,671,566-21,735,830 , GRCh38.p12 chr12: 21,518,632-21,582,896 SPX, GYS2, 1 more genes
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