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Items: 1 to 20 of 272

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7074146inversion1nstd229human GRCh38 chr21: 39,477,522-40,892,798 , GRCh37.p13 chr21: 40,849,448-42,264,724 DSCAM-IT1, LOC107985499, 15 more genes
    nsv7037900copy number variation1nstd229human GRCh38 chr21: 39,556,890-39,648,709 , GRCh37.p13 chr21: 40,928,817-41,020,636 B3GALT5-AS1, IGSF5, 1 more genes
    nsv7036611copy number variation1nstd229human GRCh38 chr21: 39,598,794-39,599,545 , GRCh37.p13 chr21: 40,970,721-40,971,472 B3GALT5-AS1
    nsv7035509copy number variation1nstd229human GRCh38 chr21: 39,555,387-40,064,586 , GRCh37.p13 chr21: 40,927,314-41,436,513 B3GALT5, B3GALT5-AS1, 5 more genes
    nsv7034017copy number variation1nstd229human GRCh38 chr21: 39,589,985-39,596,450 , GRCh37.p13 chr21: 40,961,912-40,968,377 B3GALT5-AS1
    nsv7026172copy number variation1nstd229human GRCh38 chr21: 39,605,188-39,609,523 , GRCh37.p13 chr21: 40,977,115-40,981,450 B3GALT5-AS1
    nsv7022524copy number variation1nstd229human GRCh38 chr21: 39,360,298-39,893,138 , GRCh37.p13 chr21: 40,732,224-41,265,063 LOC105372804, RPS26P4, 14 more genes
    nsv7020361copy number variation1nstd229human GRCh38 chr21: 39,564,962-39,631,454 , GRCh37.p13 chr21: 40,936,889-41,003,381 IGSF5, B3GALT5, 1 more genes
    nsv7018311copy number variation1nstd229human GRCh38 chr21: 39,575,775-39,602,954 , GRCh37.p13 chr21: 40,947,702-40,974,881 B3GALT5-AS1
    nsv6637855copy number variation1nstd102humanUncertain significance GRCh37 chr21: 40,938,031-41,108,661 , GRCh38.p12 chr21: 39,566,104-39,736,734 LOC107985499, IGSF5, 2 more genes
    nsv6637262copy number variation1nstd102humanUncertain significance GRCh37 chr21: 40,219,284-41,569,839 , GRCh38.p12 chr21: 38,847,360-40,197,912 LCA5L, JCADP1, 30 more genes
    nsv6626624copy number variation1nstd224human GRCh37 chr21: 1-48,129,895 , GRCh38.p12 chr21: 8,522,361-46,699,983 , ATP5PO, 657 more genes
    nsv6599729inversion1nstd223human GRCh38 chr21: 39,309,620-39,889,637 , GRCh37.p13 chr21: 40,681,546-41,261,562 HMGN1, PCP4, 18 more genes
    nsv6599575inversion1nstd223human GRCh38 chr21: 36,496,811-44,407,132 , GRCh37.p13 chr21: 37,869,109-45,827,015 AIRE, CFAP410, 175 more genes
    nsv6543705copy number variation1nstd223human GRCh38 chr21: 39,597,126-39,597,520 , GRCh37.p13 chr21: 40,969,053-40,969,447 B3GALT5-AS1
    nsv6538966copy number variation1nstd223human GRCh38 chr21: 39,589,985-39,596,446 , GRCh37.p13 chr21: 40,961,912-40,968,373 B3GALT5-AS1
    nsv6537857copy number variation1nstd223human GRCh38 chr21: 39,612,776-39,614,601 , GRCh37.p13 chr21: 40,984,703-40,986,528 B3GALT5-AS1, B3GALT5
    nsv6536535copy number variation1nstd223human GRCh38 chr21: 39,557,486-39,606,392 , GRCh37.p13 chr21: 40,929,413-40,978,319 B3GALT5-AS1
    nsv6315551copy number variation1nstd102humanPathogenic GRCh37 chr21: 14,420,615-48,080,926 , GRCh38.p12 chr21: 13,048,294-46,661,014 LTN1, LOC105372740, 622 more genes
    nsv6313951copy number variation1nstd102humanPathogenic GRCh37 chr21: 15,041,209-48,097,372 , GRCh38.p12 chr21: 13,668,888-46,677,460 LOC107985515, ATP5PF, 606 more genes
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