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Items: 1 to 20 of 392

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5673865copy number variation1nstd102humanPathogenic GRCh37 chr8: 145,738,945-145,743,168 , GRCh38.p12 chr8: 144,513,561-144,517,784 RECQL4, LRRC14
    nsv5564498copy number variation1nstd102humanUncertain significance GRCh37 chr8: 145,742,976-145,743,168 , GRCh38.p12 chr8: 144,517,592-144,517,784 RECQL4, LRRC14
    nsv5564448copy number variation1nstd102humanUncertain significance GRCh37 chr8: 145,736,814-145,742,902 , GRCh38.p12 chr8: 144,511,431-144,517,518 LRRC14, RECQL4, 1 more genes
    nsv5564447copy number variation1nstd102humanUncertain significance GRCh37 chr8: 145,742,505-145,742,567 , GRCh38 chr8: 144,517,121-144,517,183 RECQL4, LRRC14
    nsv5381554copy number variation1nstd102humanUncertain significance GRCh37 chr8: 145,737,517-145,743,168 , GRCh38.p12 chr8: 144,512,134-144,517,784 LRRC14, RECQL4
    nsv5248548copy number variation1nstd204human GRCh38.p13 chr8: 143,866,301-144,531,400 , GRCh37.p13 chr8: 145,146,063-145,756,784 MIR661, EXOSC4, 51 more genes
    nsv4962722copy number variation1nstd200human GRCh38 chr8: 144,517,146-144,522,246 , GRCh37.p13 chr8: 145,742,530-145,747,630 LRRC14, RECQL4, 1 more genes
    nsv4962721copy number variation1nstd200human GRCh38 chr8: 144,511,566-144,600,127 , GRCh37.p13 chr8: 145,736,949-145,825,511 RECQL4, LRRC14, 4 more genes
    nsv4829377copy number variation1nstd200human GRCh37 chr8: 145,677,518-145,742,837 , GRCh38.p12 chr8: 144,452,135-144,517,453 MIR10400, LRRC14, 8 more genes
    nsv4813923copy number variation1nstd200human GRCh37 chr8: 145,742,530-145,747,630 , GRCh38.p12 chr8: 144,517,146-144,522,246 RECQL4, LRRC24, 1 more genes
    nsv4769373copy number variation1nstd102humanUncertain significance GRCh37 chr8: 145,033,244-146,297,937 , GRCh38.p12 chr8: 143,959,076-145,072,551 ZFTRAF1, PLEC, 68 more genes
    nsv4729603copy number variation1nstd102humanLikely pathogenic GRCh37 chr8: 144,262,042-146,295,771 , GRCh38.p12 chr8: 143,180,625-145,070,385 CYC1, EEF1D, 112 more genes
    nsv4729346copy number variation1nstd102humanUncertain significance GRCh37 chr8: 145,555,125-145,779,806 , GRCh38.p12 chr8: 144,331,462-144,554,422 FOXH1, MIR10400, 26 more genes
    nsv4683161copy number variation1nstd102humanPathogenic GRCh37 chr8: 145,740,310-145,743,178 , GRCh38.p12 chr8: 144,514,926-144,517,794 LRRC14, RECQL4
    nsv4681906copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chr8: 145,736,814-145,743,168 , GRCh38.p12 chr8: 144,511,431-144,517,784 RECQL4, LRRC14, 1 more genes
    nsv4681887copy number variation1nstd102humanLikely pathogenic GRCh37 chr8: 145,738,591-145,742,902 , GRCh38.p12 chr8: 144,513,208-144,517,518 RECQL4, LRRC14
    nsv4675664copy number variation1nstd102humanPathogenic GRCh37 chr8: 128,877,995-146,295,771 , GRCh38.p12 chr8: 127,865,749-145,070,385 LOC105375789, LINC02990, 270 more genes
    nsv4675273copy number variation1nstd102humanPathogenic GRCh37 chr8: 121,042,467-146,295,771 , GRCh38.p12 chr8: 120,030,228-145,070,385 TOP1MT, SLA, 379 more genes
    nsv4669231copy number variation1nstd186human GRCh37 chr8: 145,742,664-145,743,210 , GRCh38.p12 chr8: 144,517,280-144,517,826 LRRC14, RECQL4
    nsv4668814copy number variation1nstd186human GRCh37 chr8: 145,742,838-145,743,030 , GRCh38.p12 chr8: 144,517,454-144,517,646 RECQL4, LRRC14
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