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Items: 1 to 20 of 441

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148254copy number variation1nstd102humanPathogenic GRCh38 chr17: 165,730-11,404,096 , GRCh37.p13 chr17: 396,627-11,307,413 RFLNB, C17orf100, 401 more genes
    nsv7098688copy number variation1nstd102humanPathogenic GRCh37 chr17: 3,379,473-3,379,658 , GRCh38 chr17: 3,476,179-3,476,364 SPATA22, ASPA
    nsv7095331copy number variation1nstd102humanPathogenic GRCh37 chr17: 3,379,454-3,819,519 , GRCh38.p12 chr17: 3,476,160-3,916,225 P2RX5-TAX1BP3, LOC100422717, 17 more genes
    nsv7095330copy number variation2nstd102humanUncertain significance, Pathogenic GRCh37 chr17: 3,379,454-3,385,112 , GRCh38.p12 chr17: 3,476,160-3,481,818 ASPA, SPATA22
    nsv7095329copy number variation1nstd102humanPathogenic GRCh37 chr17: 3,379,444-3,379,699 , GRCh38.p12 chr17: 3,476,150-3,476,405 SPATA22, ASPA
    nsv7095148copy number variation1nstd102humanUncertain significance GRCh37 chr17: 3,379,434-3,402,402 , GRCh38.p12 chr17: 3,476,140-3,499,108 ASPA, SPATA22
    nsv7074630inversion1nstd229human GRCh38 chr17: 1,926,290-3,643,131 , GRCh37.p13 chr17: 1,829,584-3,546,425 SAMD11P1, LOC100288728, 61 more genes
    nsv7073912inversion1nstd229human GRCh38 chr17: 1,213,690-8,318,220 , GRCh37.p13 chr17: 1,116,984-8,221,538 TNFSF12, SCARNA21, 321 more genes
    nsv7069447inversion1nstd229human GRCh38 chr17: 3,466,722-3,603,593 , GRCh37.p13 chr17: 3,370,016-3,506,887 ASPA, SPATA22, 2 more genes
    nsv6997498copy number variation1nstd229human GRCh38 chr17: 3,084,469-3,636,714 , GRCh37.p13 chr17: 2,987,763-3,540,008 TRPV1, CTNS, 24 more genes
    nsv6996838copy number variation1nstd229human GRCh38 chr17: 3,440,124-3,440,417 , GRCh37.p13 chr17: 3,343,418-3,343,711 SPATA22
    nsv6996271copy number variation1nstd229human GRCh38 chr17: 3,466,701-3,583,700 , GRCh37.p13 chr17: 3,369,995-3,486,994 TRPV3, SPATA22, 2 more genes
    nsv6995564copy number variation1nstd229human GRCh38 chr17: 3,396,087-3,729,964 , GRCh37.p13 chr17: 3,299,381-3,633,258 CTNS-AS1, ITGAE, 17 more genes
    nsv6995442copy number variation1nstd229human GRCh38 chr17: 3,453,748-3,483,000 , GRCh37.p13 chr17: 3,357,042-3,386,294 SPATA22, ASPA
    nsv6995281copy number variation1nstd229human GRCh38 chr17: 3,500,322-3,502,417 , GRCh37.p13 chr17: 3,403,616-3,405,711 SPATA22, ASPA
    nsv6993477copy number variation1nstd229human GRCh38 chr17: 3,449,374-3,467,521 , GRCh37.p13 chr17: 3,352,668-3,370,815 SPATA22
    nsv6992495copy number variation1nstd229human GRCh38 chr17: 3,466,710-3,467,067 , GRCh37.p13 chr17: 3,370,004-3,370,361 SPATA22
    nsv6992367copy number variation1nstd229human GRCh38 chr17: 3,434,280-3,440,233 , GRCh37.p13 chr17: 3,337,574-3,343,527 SPATA22, OR1E2
    nsv6983000copy number variation1nstd229human GRCh38 chr17: 3,468,994-3,550,494 , GRCh37.p13 chr17: 3,372,288-3,453,788 ASPA, SPATA22, 1 more genes
    nsv6982770copy number variation1nstd229human GRCh38 chr17: 3,468,201-5,384,400 , GRCh37.p13 chr17: 3,371,495-5,287,720 SLC25A11, CAMKK1, 83 more genes
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