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Items: 1 to 20 of 207

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5941894copy number variation1nstd209human GRCh38 chr14: 50,942,183-50,942,818 , GRCh37.p13 chr14: 51,408,901-51,409,536 , PYGL
    nsv5938835copy number variation1nstd209human GRCh38 chr14: 50,842,894-59,394,609 , GRCh37.p13 chr14: 51,309,612-59,861,327 , TMX1, 148 more genes
    nsv5935089copy number variation1nstd209human GRCh38 chr14: 46,941,699-52,127,962 , GRCh37.p13 chr14: 47,410,902-52,594,680 , RNA5SP385, 92 more genes
    nsv5672656copy number variation1nstd102humanPathogenic GRCh37 chr14: 51,372,090-51,411,141 , GRCh38.p12 chr14: 50,905,372-50,944,423 PYGL, MRPL57P9, 2 more genes
    nsv5587496copy number variation1nstd207human GRCh38 chr14: 50,942,181-50,942,811 , GRCh37.p13 chr14: 51,408,899-51,409,529 , PYGL
    nsv5502679copy number variation1nstd206human GRCh38 chr14: 50,942,183-50,942,827 , GRCh37.p13 chr14: 51,408,901-51,409,545 , PYGL
    nsv5389944copy number variation3nstd186human GRCh37 chr14: 51,408,901-51,409,545 , GRCh38.p12 chr14: 50,942,183-50,942,827 , PYGL
    nsv5377675translocation1nstd200human GRCh38 chr4: 144,270,184-144,270,184 , GRCh38 chr14: 50,933,421-50,933,421 , GRCh37.p13 chr14: 51,400,139-51,400,139 , GRCh37.p13 chr4: 145,191,337-145,191,337 LOC105377462, PYGL
    nsv5310685copy number variation1nstd204human GRCh37.p13 chr14: 51,408,901-51,409,545 , GRCh38.p13 chr14: 50,942,183-50,942,827 , PYGL
    nsv5263569copy number variation1nstd204human GRCh38.p13 chr14: 50,942,201-50,942,800 , GRCh37.p13 chr14: 51,408,919-51,409,518 , PYGL
    nsv5149848mobile element insertion1nstd203human GRCh38 chr14: 50,935,480-50,935,494 , GRCh37.p13 chr14: 51,402,198-51,402,212 PYGL
    nsv4999345copy number variation1nstd200human GRCh38 chr14: 50,942,183-50,942,827 , GRCh37.p13 chr14: 51,408,901-51,409,545 , PYGL
    nsv4832117copy number variation1nstd200human GRCh37 chr14: 51,408,901-51,409,545 , GRCh38.p12 chr14: 50,942,183-50,942,827 , PYGL
    nsv4747044copy number variation1nstd199human GRCh37 chr14: 51,408,900-51,409,533 , GRCh38.p12 chr14: 50,942,182-50,942,815 , PYGL
    nsv4701718copy number variation1nstd195human GRCh37 chr14: 51,408,899-51,408,900 , GRCh38.p12 chr14: 50,942,181-50,942,182 PYGL
    nsv4682625copy number variation1nstd102humanPathogenic GRCh37 chr14: 51,376,593-51,379,041 , GRCh38.p12 chr14: 50,909,875-50,912,323 PYGL
    nsv4675996copy number variation1nstd102humanUncertain significance GRCh37 chr14: 50,317,272-51,627,752 , GRCh38.p12 chr14: 49,850,554-51,161,034 TRIM9, LINC01588, 32 more genes
    nsv4646977copy number variation1nstd186human GRCh37 chr14: 51,409,035-51,409,545 , GRCh38.p12 chr14: 50,942,317-50,942,827 , PYGL
    nsv4642223copy number variation1nstd186human GRCh37 chr14: 51,408,908-51,409,542 , GRCh38.p12 chr14: 50,942,190-50,942,824 , PYGL
    nsv4632655copy number variation1nstd183human GRCh37 chr14: 50,198,095-51,541,608 , GRCh38.p12 chr14: 49,731,377-51,074,890 , ABHD12B, 37 more genes
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