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Items: 1 to 20 of 181

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7137094copy number variation1nstd102humanLikely pathogenic GRCh37 chr17: 44,949,883-46,507,482 , GRCh38.p12 chr17: 46,872,517-48,430,120 CDC27, ITGB3, 49 more genes
    nsv6986920copy number variation1nstd229human GRCh38 chr17: 47,965,826-47,969,276 , GRCh37.p13 chr17: 46,043,192-46,046,642 CDK5RAP3
    nsv6982466copy number variation1nstd229human GRCh38 chr17: 47,976,961-47,979,069 , GRCh37.p13 chr17: 46,054,327-46,056,435 CDK5RAP3
    nsv6624099copy number variation1nstd224human GRCh37 chr17: 46,042,327-46,052,901 , GRCh38.p12 chr17: 47,964,961-47,975,535 CDK5RAP3
    nsv6145687copy number variation1nstd206human GRCh38 chr17: 47,877,980-48,047,980 , GRCh37.p13 chr17: 45,955,346-46,125,342 SP2-AS1, PNPO, 8 more genes
    nsv5709616mobile element insertion1nstd211human GRCh38 chr17: 47,969,141-47,969,141 , GRCh37.p13 chr17: 46,046,507-46,046,507 CDK5RAP3
    nsv5554090sequence alteration1nstd206human GRCh38 chr17: 32,109,732-67,925,723 , GRCh37.p13 chr17: 30,436,751-65,921,839 , APOH, 1099 more genes
    nsv5533716copy number variation1nstd206human GRCh38 chr17: 47,965,825-47,969,275 , GRCh37.p13 chr17: 46,043,191-46,046,641 CDK5RAP3
    nsv5414226mobile element insertion1nstd206human GRCh38 chr17: 47,969,141-47,969,192 , GRCh37.p13 chr17: 46,046,507-46,046,558 CDK5RAP3
    nsv5288564copy number variation1nstd204human GRCh38.p13 chr17: 47,781,201-48,222,600 , GRCh37.p13 chr17: 45,858,567-46,299,962 CDK5RAP3, NFE2L1, 20 more genes
    nsv5286091copy number variation1nstd204human GRCh38.p13 chr17: 47,897,301-48,008,200 , GRCh37.p13 chr17: 45,974,667-46,085,566 PNPO, SP2-AS1, 3 more genes
    nsv5201211mobile element deletion1nstd204human GRCh38.p13 chr17: 47,966,912-47,967,220 , GRCh37.p13 chr17: 46,044,278-46,044,586 CDK5RAP3
    nsv5026296copy number variation1nstd200human GRCh38 chr17: 47,965,825-47,969,276 , GRCh37.p13 chr17: 46,043,191-46,046,642 CDK5RAP3
    nsv4867194copy number variation1nstd200human GRCh37 chr17: 46,043,190-46,046,641 , GRCh38.p12 chr17: 47,965,824-47,969,275 CDK5RAP3
    nsv4769515mobile element deletion1nstd200human GRCh37 chr17: 46,044,285-46,044,578 , GRCh38.p12 chr17: 47,966,919-47,967,212 CDK5RAP3
    nsv4330632inversion1nstd166human GRCh37.p13 chr17: 18,838,526-72,042,289 , GRCh38.p12 chr17: 18,935,213-74,046,150 , ACACA, 1499 more genes
    nsv4271854copy number variation1nstd166human GRCh37.p13 chr17: 45,913,073-46,111,423 , GRCh38.p12 chr17: 47,835,707-48,034,057 SP2-AS1, LRRC46, 9 more genes
    nsv3919205copy number variation1nstd102humanUncertain significance NCBI36 chr17: 43,118,852-43,419,326 , GRCh37 chr17: 45,763,853-46,064,327 , GRCh38 chr17: 47,686,487-47,986,961 TBKBP1, OSBPL7, 11 more genes
    nsv3914783copy number variation1nstd102humanPathogenic NCBI36 chr17: 16,698,288-78,654,742 , GRCh37.p13 chr17: 16,757,563-81,048,189 , GRCh38.p12 chr17: 16,854,249-83,103,577 LOC105371922, GJD3, 1855 more genes
    nsv3913552copy number variation1nstd102humanPathogenic GRCh38 chr17: 36,449,220-75,053,130 , NCBI36 chr17: 54,950,518-70,560,820 , GRCh37 chr17: 57,595,736-73,049,225 RNU6-131P, ZNF652, 1075 more genes
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