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Items: 1 to 20 of 137

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5546186copy number variation1nstd206human GRCh38 chr22: 38,193,358-38,217,372 , GRCh37.p13 chr22: 38,589,365-38,613,379 MAFF, TMEM184B
    nsv5295103copy number variation1nstd204human GRCh38.p13 chr22: 38,189,301-38,287,800 , GRCh37.p13 chr22: 38,585,308-38,683,806 RN7SL704P, MAFF, 2 more genes
    nsv5179405mobile element insertion1nstd203human GRCh38 chr22: 38,216,811-38,216,811 , GRCh37.p13 chr22: 38,612,818-38,612,818 MAFF
    nsv5168286mobile element insertion1nstd203human GRCh38 chr22: 38,206,829-38,206,845 , GRCh37.p13 chr22: 38,602,836-38,602,852 MAFF
    nsv5041102copy number variation1nstd200human GRCh38 chr22: 38,193,306-38,217,501 , GRCh37.p13 chr22: 38,589,313-38,613,508 MAFF, TMEM184B
    nsv5037405copy number variation1nstd200human GRCh38 chr22: 38,207,402-38,222,649 , GRCh37.p13 chr22: 38,603,409-38,618,656 MAFF, SNORA92, 1 more genes
    nsv5036274copy number variation1nstd200human GRCh38 chr22: 38,205,980-38,206,089 , GRCh37.p13 chr22: 38,601,987-38,602,096 MAFF
    nsv5033669copy number variation1nstd200human GRCh38 chr22: 38,206,489-38,211,472 , GRCh37.p13 chr22: 38,602,496-38,607,479 MAFF
    nsv5030509copy number variation1nstd200human GRCh38 chr22: 38,163,150-38,220,817 , GRCh37.p13 chr22: 38,559,157-38,616,824 TMEM184B, PLA2G6, 1 more genes
    nsv4888742copy number variation1nstd200human GRCh37 chr22: 38,601,987-38,602,096 , GRCh38.p12 chr22: 38,205,980-38,206,089 MAFF
    nsv4878747copy number variation1nstd200human GRCh37 chr22: 38,602,466-38,607,498 , GRCh38.p12 chr22: 38,206,459-38,211,491 MAFF
    nsv4729926copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,197,005-51,224,252 , GRCh38.p12 chr22: 16,367,190-50,785,824 FBXO7, GTSE1, 1084 more genes
    nsv4676292copy number variation1nstd102humanPathogenic GRCh37 chr22: 30,654,764-51,197,838 , GRCh38.p12 chr22: 30,258,775-50,759,410 PDXP-DT, PDGFB, 550 more genes
    nsv4676191copy number variation1nstd102humanLikely pathogenic GRCh37 chr22: 38,431,917-39,392,250 , GRCh38.p12 chr22: 38,035,910-38,996,245 CSNK1E, KCNJ4, 35 more genes
    nsv4676116copy number variation1nstd102humanPathogenic GRCh37 chr22: 38,002,218-38,973,070 , GRCh38.p12 chr22: 37,606,211-38,577,065 CSNK1E, RN7SL704P, 43 more genes
    nsv4535972copy number variation1nstd166human GRCh37.p13 chr22: 38,596,785-38,596,884 , GRCh38.p12 chr22: 38,200,778-38,200,877 MAFF
    nsv4534551copy number variation1nstd166human GRCh37.p13 chr22: 38,481,579-38,617,031 , GRCh38.p12 chr22: 38,085,572-38,221,024 TMEM184B, BAIAP2L2, 2 more genes
    nsv4457771copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,888,899-51,197,838 , GRCh38.p12 chr22: 16,408,173-50,759,410 IGLV3-27, XKR3, 1082 more genes
    nsv4457638copy number variation1nstd102humanUncertain significance GRCh37 chr22: 38,510,503-38,609,880 , GRCh38.p12 chr22: 38,114,496-38,213,873 MAFF, PLA2G6
    nsv4289285copy number variation1nstd166human GRCh37.p13 chr22: 38,597,000-38,606,000 , GRCh38.p12 chr22: 38,200,993-38,209,993 MAFF
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