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Items: 1 to 20 of 151

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5672697copy number variation1nstd102humanPathogenic GRCh37 chr11: 5,247,864-5,255,278 , GRCh38 chr11: 5,226,634-5,234,048 HBD, HBB
    nsv5672613copy number variation1nstd102humanPathogenic GRCh37 chr11: 5,247,980-5,248,508 , GRCh38 chr11: 5,226,750-5,227,278 HBB
    nsv5564368copy number variation1nstd102humanPathogenic GRCh38 chr11: 5,224,303-5,227,790 , GRCh37 chr11: 5,245,533-5,249,020 HBB
    nsv5512671copy number variation1nstd206human GRCh38 chr11: 5,226,163-5,227,555 , GRCh37.p13 chr11: 5,247,393-5,248,785 HBB
    nsv5506253copy number variation1nstd206human GRCh38 chr11: 5,226,630-5,234,072 , GRCh37.p13 chr11: 5,247,860-5,255,302 HBD, HBB
    nsv5503975copy number variation1nstd206human GRCh38 chr11: 5,226,500-5,250,000 , GRCh37.p13 chr11: 5,247,730-5,271,230 HBB, HBG1, 3 more genes
    nsv5354679translocation1nstd200human GRCh38 chr11: 5,226,928-5,226,928 , GRCh38 chr11: 5,226,801-5,226,801 , GRCh37.p13 chr11: 5,248,158-5,248,158 , GRCh37.p13 chr11: 5,248,031-5,248,031 HBB
    nsv5354678translocation1nstd200human GRCh38 chr11: 5,226,576-5,226,576 , GRCh38 chr11: 5,225,727-5,225,727 , GRCh37.p13 chr11: 5,246,957-5,246,957 , GRCh37.p13 chr11: 5,247,806-5,247,806 HBB
    nsv5344350translocation1nstd200human GRCh37 chr11: 5,247,806-5,247,806 , GRCh37 chr11: 5,246,957-5,246,957 , GRCh38.p12 chr11: 5,225,727-5,225,727 , GRCh38.p12 chr11: 5,226,576-5,226,576 HBB
    nsv5331255translocation1nstd200human GRCh37 chr11: 5,248,158-5,248,158 , GRCh37 chr11: 5,248,031-5,248,031 , GRCh38.p12 chr11: 5,226,928-5,226,928 , GRCh38.p12 chr11: 5,226,801-5,226,801 HBB
    nsv5329539translocation1nstd204human GRCh38.p13 chr11: 5,226,576-5,226,576 , GRCh38.p13 chr11: 5,225,727-5,225,727 , GRCh37.p13 chr11: 5,247,806-5,247,806 , GRCh37.p13 chr11: 5,246,957-5,246,957 HBB
    nsv5321040translocation1nstd204human GRCh38.p13 chr11: 5,226,928-5,226,928 , GRCh38.p13 chr11: 5,226,801-5,226,801 , GRCh37.p13 chr11: 5,248,158-5,248,158 , GRCh37.p13 chr11: 5,248,031-5,248,031 HBB
    nsv5253483copy number variation1nstd204human GRCh38.p13 chr11: 5,225,228-5,228,203 , GRCh37.p13 chr11: 5,246,458-5,249,433 HBB
    nsv5200298copy number variation1nstd102humanPathogenic GRCh37 chr11: 5,246,695-5,255,713 , GRCh38.p12 chr11: 5,225,465-5,234,483 HBB, HBD
    nsv5059943copy number variation1nstd102humanPathogenic GRCh38 chr11: 5,218,346-5,226,066 , GRCh37 chr11: 5,239,576-5,247,296 HBB
    nsv4977996copy number variation1nstd200human GRCh38 chr11: 5,227,379-5,231,261 , GRCh37.p13 chr11: 5,248,609-5,252,491 HBB, HBD
    nsv4977994copy number variation1nstd200human GRCh38 chr11: 5,159,176-5,242,752 , GRCh37.p13 chr11: 5,180,406-5,263,982 HBB, HBBP1, 5 more genes
    nsv4977991copy number variation1nstd200human GRCh38 chr11: 5,153,221-5,238,138 , GRCh37.p13 chr11: 5,174,451-5,259,368 OR51V1, HBB, 3 more genes
    nsv4842680copy number variation1nstd200human GRCh37 chr11: 5,233,952-5,274,724 , GRCh38.p12 chr11: 5,212,722-5,253,494 HBB, HBBP1, 4 more genes
    nsv4842311copy number variation1nstd200human GRCh37 chr11: 5,174,451-5,259,368 , GRCh38.p12 chr11: 5,153,221-5,238,138 OR51A1P, OR52Z1P, 3 more genes
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