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Items: 1 to 20 of 388

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7143300copy number variation1nstd232human GRCh37.p13 chr21: 35,818,199-35,818,256 , GRCh38.p12 chr21: 34,445,901-34,445,958 KCNE1
    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
    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
    nsv6545982copy number variation1nstd223human GRCh38 chr21: 34,510,506-34,511,798 , GRCh37.p13 chr21: 35,882,804-35,884,096 KCNE1
    nsv6544754copy number variation1nstd223human GRCh38 chr21: 34,500,832-34,501,352 , GRCh37.p13 chr21: 35,873,130-35,873,650 KCNE1
    nsv6538926copy number variation1nstd223human GRCh38 chr21: 34,505,198-34,508,486 , GRCh37.p13 chr21: 35,877,496-35,880,784 KCNE1
    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
    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
    nsv6311106copy number variation1nstd102humanPathogenic GRCh37 chr21: 35,821,543-35,821,932 , GRCh38.p12 chr21: 34,449,245-34,449,634 KCNE1
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