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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
    nsv5672697copy number variation1nstd102humanPathogenic GRCh37 chr11: 5,247,864-5,255,278 , GRCh38 chr11: 5,226,634-5,234,048 HBD, 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
    nsv5241775copy number variation1nstd204human GRCh38.p13 chr11: 5,231,968-5,234,187 , GRCh37.p13 chr11: 5,253,198-5,255,417 HBD
    nsv5200298copy number variation1nstd102humanPathogenic GRCh37 chr11: 5,246,695-5,255,713 , GRCh38.p12 chr11: 5,225,465-5,234,483 HBB, HBD
    nsv4977997copy number variation1nstd200human GRCh38 chr11: 5,233,172-5,240,376 , GRCh37.p13 chr11: 5,254,402-5,261,606 HBD, HBBP1
    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
    nsv4838242copy number variation1nstd200human GRCh37 chr11: 5,180,406-5,263,982 , GRCh38.p12 chr11: 5,159,176-5,242,752 HBB, HBBP1, 5 more genes
    nsv4768373copy number variation1nstd102humanPathogenic GRCh37 chr11: 210,300-8,664,358 , GRCh38.p12 chr11: 210,300-8,642,811 LOC107984302, STK33, 375 more genes
    nsv4751865inversion1nstd199human GRCh37 chr11: 1,620,303-71,272,233 , GRCh38.p12 chr11: 1,599,073-71,561,187 , ACP2, 1686 more genes
    nsv4741272copy number variation1nstd199human GRCh37 chr11: 3,487,146-67,605,076 , GRCh38.p12 chr11: 3,465,916-67,837,605 , DRAP1, 1535 more genes
    nsv4675849copy number variation1nstd102humanUncertain significance GRCh37 chr11: 5,187,269-5,268,465 , GRCh38.p12 chr11: 5,166,039-5,247,235 OR51A1P, HBB, 6 more genes
    nsv4675645copy number variation1nstd102humanUncertain significance GRCh37 chr11: 5,187,270-5,262,621 , GRCh38.p12 chr11: 5,166,040-5,241,391 HBB, OR52Z1P, 4 more genes
    nsv4675184copy number variation1nstd102humanPathogenic GRCh37 chr11: 5,112,523-5,336,304 , GRCh38.p12 chr11: 5,091,293-5,315,074 OR52A4P, OR52J1P, 16 more genes
    nsv4674879copy number variation1nstd102humanPathogenic GRCh37 chr11: 235,934-33,826,995 , GRCh38.p12 chr11: 235,934-33,805,449 BGLT3, RPL21P97, 723 more genes
    nsv4605382copy number variation1nstd183human GRCh37 chr11: 5,255,278-5,262,232 , GRCh38.p12 chr11: 5,234,048-5,241,002 HBBP1, HBD
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