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Items: 1 to 20 of 324

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112797copy number variation1nstd102humanPathogenic GRCh37 chr16: 84,485-5,251,013 , GRCh38.p12 chr16: 34,485-5,201,012 ANTKMT, HBA1, 307 more genes
    nsv5937469copy number variation1nstd209human GRCh38 chr16: 165,404-184,683 , GRCh37.p13 chr16: 215,403-234,682 HBA1, HBA2, 4 more genes
    nsv5871108copy number variation2nstd209human GRCh38 chr16: 166,526-167,550 , GRCh37.p13 chr16: 216,525-217,549 HBM, HBAP1
    nsv5652335insertion1nstd207human GRCh38 chr16: 164,759-164,759 , GRCh37.p13 chr16: 214,758-214,758 HBZP1, HBM
    nsv5590619copy number variation1nstd207human GRCh38 chr16: 165,396-184,699 , GRCh37.p13 chr16: 215,395-234,698 HBA1, HBA2, 4 more genes
    nsv5585341copy number variation1nstd207human GRCh38 chr16: 164,716-164,776 , GRCh37.p13 chr16: 214,715-214,775 HBM, HBZP1
    nsv5528090copy number variation1nstd206human GRCh38 chr16: 165,396-184,700 , GRCh37.p13 chr16: 215,395-234,699 HBA1, HBA2, 4 more genes
    nsv5527529copy number variation1nstd206human GRCh38 chr16: 159,234-182,766 , GRCh37.p13 chr16: 209,233-232,765 HBA1, HBA2, 5 more genes
    nsv5526708copy number variation1nstd206human GRCh38 chr16: 154,201-164,704 , GRCh37.p13 chr16: 204,200-214,703 HBZ, HBM, 2 more genes
    nsv5522593copy number variation1nstd206human GRCh38 chr16: 30,000-276,000 , GRCh37.p13 chr16: 80,000-326,000 HBZ, C4orf46P1, 16 more genes
    nsv5513934copy number variation1nstd206human GRCh38 chr16: 166,931-167,006 , GRCh37.p13 chr16: 216,930-217,005 HBM, HBAP1
    nsv5349380translocation1nstd200human GRCh38 chr16: 165,396-165,396 , GRCh38 chr16: 184,700-184,700 , GRCh37.p13 chr16: 234,699-234,699 , GRCh37.p13 chr16: 215,395-215,395 HBM, HBZP1
    nsv5280047copy number variation1nstd204human GRCh38.p13 chr16: 152,701-165,000 , GRCh37.p13 chr16: 202,700-214,999 HBZ, HBM, 2 more genes
    nsv5277182copy number variation1nstd204human GRCh38.p13 chr16: 163,116-164,686 , GRCh37.p13 chr16: 213,115-214,685 HBZP1, HBM, 1 more genes
    nsv5265522copy number variation1nstd204human GRCh38.p13 chr16: 53,201-2,576,200 , GRCh37.p13 chr16: 103,201-2,626,201 , RHBDL1, 175 more genes
    nsv5009303copy number variation1nstd200human GRCh38 chr16: 122,985-378,595 , GRCh37.p13 chr16: 172,984-428,595 HBQ1, HBA2, 16 more genes
    nsv5002828copy number variation1nstd200human GRCh38 chr16: 166,593-169,823 , GRCh37.p13 chr16: 216,592-219,822 HBM, HBAP1
    nsv4866276copy number variation1nstd200human GRCh37 chr16: 215,395-234,699 , GRCh38.p12 chr16: 165,396-184,700 HBA1, HBA2, 4 more genes
    nsv4729241copy number variation1nstd102humanPathogenic GRCh37 chr16: 85,880-5,249,457 , GRCh38.p12 chr16: 35,880-5,199,456 MTRNR2L4, BRICD5, 307 more genes
    nsv4683247copy number variation1nstd102humanPathogenic GRCh37 chr16: 213,800-230,200 , GRCh38 chr16: 163,801-180,201 HBA1, HBA2, 4 more genes
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