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Items: 1 to 20 of 265

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7068927inversion1nstd229human GRCh38 chr21: 39,336,967-39,342,407 , GRCh37.p13 chr21: 40,708,893-40,714,333 HMGN1
    nsv7037164copy number variation1nstd229human GRCh38 chr21: 39,331,401-39,371,300 , GRCh37.p13 chr21: 40,703,327-40,743,226 HMGN1, LOC105372804
    nsv7035728copy number variation1nstd229human GRCh38 chr21: 39,338,149-39,340,547 , GRCh37.p13 chr21: 40,710,075-40,712,473 HMGN1
    nsv7034059copy number variation1nstd229human GRCh38 chr21: 39,333,011-39,341,409 , GRCh37.p13 chr21: 40,704,937-40,713,335 HMGN1
    nsv7030226copy number variation1nstd229human GRCh38 chr21: 39,177,601-39,546,000 , GRCh37.p13 chr21: 40,549,527-40,917,927 LCA5L, BRWD1-AS1, 15 more genes
    nsv7028477copy number variation1nstd229human GRCh38 chr21: 39,348,101-39,483,400 , GRCh37.p13 chr21: 40,720,027-40,855,326 HMGN1, GET1, 6 more genes
    nsv7027994copy number variation1nstd229human GRCh38 chr21: 39,339,262-39,351,525 , GRCh37.p13 chr21: 40,711,188-40,723,451 HMGN1, LOC105372804
    nsv7021563copy number variation1nstd229human GRCh38 chr21: 39,327,153-39,400,348 , GRCh37.p13 chr21: 40,699,079-40,772,274 GET1-SH3BGR, GET1, 3 more genes
    nsv7018791copy number variation1nstd229human GRCh38 chr21: 39,345,920-39,349,823 , GRCh37.p13 chr21: 40,717,846-40,721,749 HMGN1, LOC105372804
    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
    nsv6553858copy number variation1nstd223human GRCh38 chr21: 39,333,011-39,341,404 , GRCh37.p13 chr21: 40,704,937-40,713,330 HMGN1
    nsv6545557copy number variation1nstd223human GRCh38 chr21: 39,345,920-39,349,819 , GRCh37.p13 chr21: 40,717,846-40,721,745 LOC105372804, HMGN1
    nsv6545148copy number variation1nstd223human GRCh38 chr21: 39,331,493-39,371,343 , GRCh37.p13 chr21: 40,703,419-40,743,269 HMGN1, LOC105372804
    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
    nsv6291620copy number variation1nstd102humanUncertain significance GRCh37 chr21: 39,892,114-40,905,632 , GRCh38.p12 chr21: 38,520,190-39,533,705 LINC02940, BRWD1-AS1, 28 more genes
    nsv6289996copy number variation1nstd102humanPathogenic GRCh37 chr21: 1-48,129,895 , GRCh38.p12 chr21: 8,522,361-46,699,983 KRTAP7-1, MAP3K7CL, 656 more genes
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