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Items: 1 to 20 of 153

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5980411copy number variation1nstd102humanLikely pathogenic GRCh37 chr19: 12,757,433-12,769,324 , GRCh38.p12 chr19: 12,646,619-12,658,510 MAN2B1
    nsv5976706insertion1nstd209human GRCh38 chr19: 12,649,472-12,649,472 , GRCh37.p13 chr19: 12,760,286-12,760,286 MAN2B1
    nsv5974799inversion1nstd209human GRCh38 chr19: 12,342,936-19,691,231 , GRCh37.p13 chr19: 12,453,750-19,802,040 , GET3, 322 more genes
    nsv5673388copy number variation1nstd102humanLikely pathogenic GRCh37 chr19: 12,760,717-12,761,046 , GRCh38.p12 chr19: 12,649,903-12,650,232 MAN2B1
    nsv5519056copy number variation1nstd206human GRCh38 chr19: 12,650,348-12,650,685 , GRCh37.p13 chr19: 12,761,162-12,761,499 MAN2B1
    nsv5323579copy number variation1nstd204human GRCh38.p13 chr19: 12,659,801-12,660,410 , GRCh37.p13 chr19: 12,770,615-12,771,224 MAN2B1
    nsv5295678copy number variation1nstd204human GRCh38.p13 chr19: 12,445,401-12,989,100 , GRCh37.p13 chr19: 12,556,215-13,099,914 GCDH, RPL10P16, 46 more genes
    nsv5282549copy number variation1nstd204human GRCh38.p13 chr19: 12,584,101-13,543,500 , GRCh37.p13 chr19: 12,694,915-13,654,314 , NFIX, 50 more genes
    nsv5041043inversion1nstd200human GRCh38 chr19: 11,963,569-20,150,886 , GRCh37.p13 chr19: 12,074,384-20,193,556 , USE1, 369 more genes
    nsv5014542copy number variation1nstd200human GRCh38 chr19: 12,639,153-12,649,624 , GRCh37.p13 chr19: 12,749,967-12,760,438 RPL10P16, MAN2B1, 1 more genes
    nsv5011808copy number variation1nstd200human GRCh38 chr19: 12,650,544-12,662,012 , GRCh37.p13 chr19: 12,761,358-12,772,826 MAN2B1
    nsv5011807copy number variation1nstd200human GRCh38 chr19: 12,650,657-12,654,294 , GRCh37.p13 chr19: 12,761,471-12,765,108 MAN2B1
    nsv4864939copy number variation1nstd200human GRCh37 chr19: 12,749,967-12,760,438 , GRCh38.p12 chr19: 12,639,153-12,649,624 RPL10P16, MAN2B1, 1 more genes
    nsv4860336copy number variation1nstd200human GRCh37 chr19: 12,770,624-12,771,217 , GRCh38.p12 chr19: 12,659,810-12,660,403 MAN2B1
    nsv4860335copy number variation1nstd200human GRCh37 chr19: 12,761,358-12,772,826 , GRCh38.p12 chr19: 12,650,544-12,662,012 MAN2B1
    nsv4860334copy number variation1nstd200human GRCh37 chr19: 12,761,471-12,765,108 , GRCh38.p12 chr19: 12,650,657-12,654,294 MAN2B1
    nsv4685775copy number variation1nstd102humannot provided GRCh37 chr19: 10,642,984-12,810,067 , GRCh38.p12 chr19: 10,532,308-12,699,253 SLC44A2, ZNF833P, 114 more genes
    nsv4682867copy number variation1nstd102humanLikely pathogenic GRCh37 chr19: 12,758,358-12,759,516 , GRCh38 chr19: 12,647,544-12,648,702 MAN2B1
    nsv4630529copy number variation2nstd183human GRCh37 chr19: 12,735,946-13,097,039 , GRCh38.p12 chr19: 12,625,132-12,986,225 MAST1, SNORD41, 35 more genes
    nsv4629336copy number variation1nstd183human GRCh37 chr19: 12,295,610-12,947,938 , GRCh38.p12 chr19: 12,184,795-12,837,124 , DHPS, 44 more genes
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