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Items: 1 to 20 of 249

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7147789insertion1nstd232human GRCh37.p13 chr21: 33,976,595-33,976,595 , GRCh38.p12 chr21: 32,604,285-32,604,285 CFAP298, CFAP298-TCP10L
    nsv7075861inversion1nstd229human GRCh38 chr21: 32,596,447-36,013,453 , GRCh37.p13 chr21: 33,968,757-37,385,751 , IFNAR2, 64 more genes
    nsv7070554inversion1nstd229human GRCh38 chr21: 28,138,154-35,660,050 , GRCh37.p13 chr21: 29,510,473-37,032,348 , OR7E23P, 160 more genes
    nsv7070253inversion1nstd229human GRCh38 chr21: 28,377,443-35,730,342 , GRCh37.p13 chr21: 29,749,764-37,102,640 , HUNK, 161 more genes
    nsv7066273inversion1nstd229human GRCh38 chr21: 31,423,658-33,221,331 , GRCh37.p13 chr21: 32,795,971-34,593,636 MRAP, FBXW11P1, 37 more genes
    nsv7066036inversion1nstd229human GRCh38 chr21: 29,840,839-33,329,795 , GRCh37.p13 chr21: 31,213,156-34,702,101 SYNJ1, CLDN8, 95 more genes
    nsv7037616copy number variation1nstd229human GRCh38 chr21: 32,612,260-32,612,302 , GRCh37.p13 chr21: 33,984,570-33,984,612 CFAP298-TCP10L, CFAP298
    nsv7036564copy number variation1nstd229human GRCh38 chr21: 32,495,031-32,627,708 , GRCh37.p13 chr21: 33,867,341-34,000,018 SYNJ1, EXOSC3P1, 6 more genes
    nsv7028850copy number variation1nstd229human GRCh38 chr21: 32,563,944-32,941,592 , GRCh37.p13 chr21: 33,936,254-34,313,900 OR7E23P, SYNJ1, 8 more genes
    nsv6634422copy number variation1nstd102humanUncertain significance GRCh37 chr21: 33,032,083-34,809,269 , GRCh38.p12 chr21: 31,659,770-33,436,962 SOD1, CFAP298, 39 more genes
    nsv6626624copy number variation1nstd224human GRCh37 chr21: 1-48,129,895 , GRCh38.p12 chr21: 8,522,361-46,699,983 , ATP5PO, 657 more genes
    nsv6596327inversion1nstd223human GRCh38 chr21: 28,377,391-35,730,332 , GRCh37.p13 chr21: 29,749,712-37,102,630 , LOC107985515, 161 more genes
    nsv6541804copy number variation1nstd223human GRCh38 chr21: 32,603,930-32,605,666 , GRCh37.p13 chr21: 33,976,240-33,977,976 CFAP298-TCP10L, CFAP298
    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
    nsv6314844copy number variation1nstd102humanPathogenic GRCh38 chr21: 32,213,458-34,373,118 , GRCh37.p13 chr21: 33,585,770-35,745,417 CFAP298, C21orf62-AS1, 53 more genes
    nsv6314196copy number variation1nstd102humanUncertain significance GRCh37 chr21: 27,185,913-35,853,445 , GRCh38.p12 chr21: 25,813,602-34,481,147 RPL12P9, CLDN17, 173 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
    nsv6311248copy number variation2nstd102humanUncertain significance GRCh37 chr21: 32,439,271-39,212,984 , GRCh38.p12 chr21: 31,066,952-37,840,682 ATP5PO, LOC105372789, 131 more genes
    nsv6291538copy number variation1nstd102humanUncertain significance GRCh37 chr21: 32,676,376-35,131,913 , GRCh38.p12 chr21: 31,304,061-33,759,608 LINC00945, CFAP298-TCP10L, 53 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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