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Items: 1 to 20 of 309

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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
    nsv6627152copy number variation1nstd224human GRCh37 chr21: 35,726,226-35,911,599 , GRCh38.p12 chr21: 34,353,927-34,539,301 RCAN1, KCNE1, 6 more genes
    nsv6627005copy number variation6nstd224human GRCh37 chr21: 35,726,226-35,895,986 , GRCh38.p12 chr21: 34,353,927-34,523,688 RCAN1, KCNE1, 6 more genes
    nsv6627004copy number variation1nstd224human GRCh37 chr21: 35,726,226-35,893,737 , GRCh38.p12 chr21: 34,353,927-34,521,439 RCAN1, KCNE1, 6 more genes
    nsv6626872copy number variation1nstd224human GRCh37 chr21: 35,722,817-35,904,483 , GRCh38.p12 chr21: 34,350,518-34,532,185 RCAN1, KCNE1, 6 more genes
    nsv6626871copy number variation2nstd224human GRCh37 chr21: 35,722,817-35,903,830 , GRCh38.p12 chr21: 34,350,518-34,531,532 RCAN1, KCNE1, 6 more genes
    nsv6626642copy number variation1nstd224human GRCh37 chr21: 35,736,166-35,907,413 , GRCh38.p12 chr21: 34,363,867-34,535,115 RCAN1, KCNE1, 6 more genes
    nsv6626641copy number variation1nstd224human GRCh37 chr21: 35,736,166-35,757,915 , GRCh38.p12 chr21: 34,363,867-34,385,617 SMIM11, KCNE2, 1 more genes
    nsv6626624copy number variation1nstd224human GRCh37 chr21: 1-48,129,895 , GRCh38.p12 chr21: 8,522,361-46,699,983 , ATP5PO, 657 more genes
    nsv6599813inversion1nstd223human GRCh38 chr21: 34,363,514-34,364,486 , GRCh37.p13 chr21: 35,735,813-35,736,785 LOC105372791, KCNE2
    nsv6596327inversion1nstd223human GRCh38 chr21: 28,377,391-35,730,332 , GRCh37.p13 chr21: 29,749,712-37,102,630 , LOC107985515, 161 more genes
    nsv6541028copy number variation1nstd223human GRCh38 chr21: 34,368,461-34,369,370 , GRCh37.p13 chr21: 35,740,760-35,741,669 LOC105372791, KCNE2
    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
    nsv6311105copy number variation2nstd102humanUncertain significance GRCh37 chr21: 35,742,778-35,821,932 , GRCh38.p12 chr21: 34,370,479-34,449,634 SMIM34, SMIM11, 5 more genes
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