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Items: 1 to 20 of 401

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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
    nsv7099007copy number variation1nstd102humanPathogenic GRCh37 chr17: 3,539,761-3,561,464 , GRCh38.p12 chr17: 3,636,467-3,658,170 CTNS, SHPK, 2 more genes
    nsv7095333copy number variation1nstd102humanPathogenic GRCh37 chr17: 3,543,501-3,543,581 , GRCh38.p12 chr17: 3,640,207-3,640,287 CTNS, LOC105371493
    nsv7095332copy number variation2nstd102humanUncertain significance GRCh37 chr17: 3,533,479-3,571,820 , GRCh38.p12 chr17: 3,630,185-3,668,526 SHPK, RPL21P125, 6 more genes
    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
    nsv7094969copy number variation1nstd102humanUncertain significance GRCh37 chr17: 3,447,853-3,571,820 , GRCh38.p12 chr17: 3,544,559-3,668,526 CTNS-AS1, TRPV3, 9 more genes
    nsv7094884copy number variation1nstd102humanPathogenic GRCh37 chr17: 3,558,272-3,560,109 , GRCh38.p12 chr17: 3,654,978-3,656,815 CTNS, CTNS-AS1
    nsv7094883copy number variation1nstd102humanPathogenic GRCh37 chr17: 3,543,501-3,552,245 , GRCh38.p12 chr17: 3,640,207-3,648,951 LOC105371493, CTNS
    nsv7093164copy number variation1nstd102humanLikely benign GRCh38 chr17: 3,656,390-3,656,466 , GRCh37 chr17: 3,559,684-3,559,760 CTNS-AS1, CTNS
    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
    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
    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
    nsv6990574copy number variation1nstd229human GRCh38 chr17: 3,662,301-3,664,800 , GRCh37.p13 chr17: 3,565,595-3,568,094 CTNS, P2RX5-TAX1BP3, 2 more genes
    nsv6989267copy number variation1nstd229human GRCh38 chr17: 3,616,779-3,654,646 , GRCh37.p13 chr17: 3,520,073-3,557,940 LOC105371493, SHPK, 3 more genes
    nsv6986133copy number variation1nstd229human GRCh38 chr17: 3,601,052-3,658,172 , GRCh37.p13 chr17: 3,504,346-3,561,466 CTNS, SHPK, 4 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
    nsv6982450copy number variation1nstd229human GRCh38 chr17: 1,838,614-7,660,509 , GRCh37.p13 chr17: 1,741,908-7,563,827 NCBP3, OR1P1, 242 more genes
    nsv6982352copy number variation1nstd229human GRCh38 chr17: 3,660,048-3,660,751 , GRCh37.p13 chr17: 3,563,342-3,564,045 CTNS
    nsv6637211copy number variation1nstd102humanUncertain significance GRCh37 chr17: 3,392,984-3,631,198 , GRCh38.p12 chr17: 3,489,690-3,727,904 TRPV3, SPATA22, 14 more genes
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