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Items: 1 to 20 of 383

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096092copy number variation1nstd102humanPathogenic GRCh37 chr21: 34,011,198-34,100,351 , GRCh38.p12 chr21: 32,638,888-32,728,040 PAXBP1-AS1, SYNJ1
    nsv7075861inversion1nstd229human GRCh38 chr21: 32,596,447-36,013,453 , GRCh37.p13 chr21: 33,968,757-37,385,751 , IFNAR2, 64 more genes
    nsv7075564inversion1nstd229human GRCh38 chr21: 32,672,056-32,672,321 , GRCh37.p13 chr21: 34,044,366-34,044,631 SYNJ1
    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
    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
    nsv7033897copy number variation1nstd229human GRCh38 chr21: 32,627,298-32,627,663 , GRCh37.p13 chr21: 33,999,608-33,999,973 SYNJ1
    nsv7031247copy number variation1nstd229human GRCh38 chr21: 32,687,894-32,699,538 , GRCh37.p13 chr21: 34,060,204-34,071,848 SYNJ1
    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
    nsv7028429copy number variation1nstd229human GRCh38 chr21: 32,710,349-32,718,036 , GRCh37.p13 chr21: 34,082,659-34,090,346 SYNJ1
    nsv7025793copy number variation1nstd229human GRCh38 chr21: 32,717,941-32,721,530 , GRCh37.p13 chr21: 34,090,251-34,093,840 SYNJ1
    nsv7018832copy number variation1nstd229human GRCh38 chr21: 32,692,384-32,734,220 , GRCh37.p13 chr21: 34,064,694-34,106,531 SYNJ1, PAXBP1-AS1, 1 more genes
    nsv7018240copy number variation1nstd229human GRCh38 chr21: 32,628,036-32,630,658 , GRCh37.p13 chr21: 34,000,346-34,002,968 SYNJ1
    nsv6635290copy number variation1nstd227human GRCh37 chr21: 33,998,027-34,020,786 , GRCh38.p12 chr21: 32,625,717-32,648,476 SYNJ1
    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
    nsv6600004inversion1nstd223human GRCh38 chr21: 32,632,576-32,632,817 , GRCh37.p13 chr21: 34,004,886-34,005,127 SYNJ1
    nsv6599426inversion1nstd223human GRCh38 chr21: 32,709,361-32,709,784 , GRCh37.p13 chr21: 34,081,671-34,082,094 SYNJ1
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