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Items: 1 to 20 of 78

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5672878copy number variation1nstd102humanPathogenic GRCh37 chr17: 3,379,444-3,402,392 , GRCh38.p12 chr17: 3,476,150-3,499,098 SPATA22, ASPA
    nsv4453889copy number variation1nstd102humanPathogenic GRCh37 chr17: 3,392,519-3,402,392 , GRCh38 chr17: 3,489,225-3,499,098 SPATA22, ASPA
    nsv5673115copy number variation1nstd102humanPathogenic GRCh37 chr17: 3,392,519-3,397,763 , GRCh38.p12 chr17: 3,489,225-3,494,469 SPATA22, ASPA
    nsv5672970copy number variation1nstd102humanPathogenic GRCh37 chr17: 3,384,887-3,386,896 , GRCh38.p12 chr17: 3,481,593-3,483,602 SPATA22, ASPA
    nsv7095329copy number variation1nstd102humanPathogenic GRCh37 chr17: 3,379,444-3,379,699 , GRCh38.p12 chr17: 3,476,150-3,476,405 SPATA22, ASPA
    nsv6310302copy number variation1nstd102humanPathogenic GRCh37 chr17: 3,402,175-3,402,392 , GRCh38.p12 chr17: 3,498,881-3,499,098 SPATA22, ASPA
    nsv7098688copy number variation1nstd102humanPathogenic GRCh37 chr17: 3,379,473-3,379,658 , GRCh38 chr17: 3,476,179-3,476,364 SPATA22, ASPA
    nsv5672879copy number variation1nstd102humanPathogenic GRCh37 chr17: 3,397,634-3,397,763 , GRCh38.p12 chr17: 3,494,340-3,494,469 SPATA22, ASPA
    nsv6636097copy number variation1nstd102humanPathogenic GRCh38 chr17: 3,489,233-3,489,340 , GRCh37 chr17: 3,392,527-3,392,634 SPATA22, ASPA
    nsv6314687copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chr17: 3,379,295-3,402,701 , GRCh38.p12 chr17: 3,476,001-3,499,407 SPATA22, ASPA
    nsv7095330copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr17: 3,379,454-3,385,112 , GRCh38.p12 chr17: 3,476,160-3,481,818 SPATA22, ASPA
    nsv5672971copy number variation1nstd102humanLikely pathogenic GRCh37 chr17: 3,397,634-3,402,392 , GRCh38.p12 chr17: 3,494,340-3,499,098 SPATA22, ASPA
    nsv5673114copy number variation1nstd102humanLikely pathogenic GRCh37 chr17: 3,392,519-3,392,646 , GRCh38.p12 chr17: 3,489,225-3,489,352 SPATA22, ASPA
    nsv7095148copy number variation1nstd102humanUncertain significance GRCh37 chr17: 3,379,434-3,402,402 , GRCh38.p12 chr17: 3,476,140-3,499,108 SPATA22, ASPA
    nsv6291559copy number variation1nstd102humanLikely benign GRCh37 chr17: 3,377,621-3,449,869 , GRCh38.p12 chr17: 3,474,327-3,546,575 SPATA22, TRPV3, 1 more genes
    nsv3899877copy number variation1nstd102humanBenign GRCh37 chr17: 3,293,338-3,372,179 , GRCh38.p12 chr17: 3,390,044-3,468,885 SPATA22, OR1E2, 2 more genes
    nsv5673116copy number variation2nstd102humanPathogenic GRCh37 chr17: 3,392,519-3,564,038 , GRCh38.p12 chr17: 3,489,225-3,660,744 SPATA22, ASPA, 7 more genes
    nsv3913013copy number variation1nstd102humanPathogenic GRCh38 chr17: 162,016-7,697,012 , GRCh37 chr17: 45,835-7,600,330 , NCBI36 chr17: 11,807-7,541,055 SPATA22, RPS4XP17, 289 more genes
    nsv3915884copy number variation1nstd102humanPathogenic GRCh37 chr17: 45,835-6,862,369 , GRCh38 chr17: 162,088-6,959,050 , NCBI36 chr17: 11,879-6,803,093 SPATA22, LOC105371592, 222 more genes
    nsv3922546copy number variation1nstd102humanPathogenic NCBI36 chr17: 525-5,779,421 , GRCh38 chr17: 150,732-5,935,377 , GRCh37 chr17: 525-5,838,697 SPATA22, CHRNE, 198 more genes
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