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Items: 1 to 20 of 349

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112811copy number variation1nstd102humanPathogenic GRCh37 chr17: 3,539,741-3,561,489 , GRCh38.p12 chr17: 3,636,447-3,658,195 CTNS, SHPK, 2 more genes
    nsv6112772copy number variation1nstd102humanPathogenic GRCh37 chr17: 2,313,096-3,735,525 , GRCh38.p12 chr17: 2,409,802-3,832,231 LOC105371592, OR3A5P, 49 more genes
    nsv5714829mobile element insertion1nstd211human GRCh38 chr17: 3,651,982-3,651,982 , GRCh37.p13 chr17: 3,555,276-3,555,276 CTNS, CTNS-AS1, 1 more genes
    nsv5673117copy number variation1nstd102humanPathogenic GRCh37 chr17: 3,539,712-3,552,235 , GRCh38.p12 chr17: 3,636,418-3,648,941 CTNS, SHPK, 1 more genes
    nsv5673116copy number variation2nstd102humanPathogenic GRCh37 chr17: 3,392,519-3,564,038 , GRCh38.p12 chr17: 3,489,225-3,660,744 ASPA, CTNS, 7 more genes
    nsv5673035copy number variation1nstd102humanPathogenic GRCh37 chr17: 3,539,712-3,543,571 , GRCh38.p12 chr17: 3,636,418-3,640,277 CTNS, SHPK, 1 more genes
    nsv5659367insertion2nstd207human GRCh38 chr17: 3,656,157-3,656,157 , GRCh37.p13 chr17: 3,559,451-3,559,451 CTNS, CTNS-AS1
    nsv5532162copy number variation1nstd206human GRCh38 chr17: 3,654,201-3,654,276 , GRCh37.p13 chr17: 3,557,495-3,557,570 CTNS, CTNS-AS1
    nsv5531056copy number variation1nstd206human GRCh38 chr17: 3,601,052-3,658,170 , GRCh37.p13 chr17: 3,504,346-3,561,464 CTNS, TRPV1, 4 more genes
    nsv5528184copy number variation1nstd206human GRCh38 chr17: 3,655,865-3,655,929 , GRCh37.p13 chr17: 3,559,159-3,559,223 CTNS-AS1, CTNS
    nsv5358565translocation1nstd200human GRCh38 chr17: 3,659,280-3,659,280 , GRCh38 chr17: 3,659,337-3,659,337 , GRCh37.p13 chr17: 3,562,631-3,562,631 , GRCh37.p13 chr17: 3,562,574-3,562,574 CTNS
    nsv5358563translocation1nstd200human GRCh38 chr17: 3,658,170-3,658,170 , GRCh38 chr17: 3,601,052-3,601,052 , GRCh37.p13 chr17: 3,561,464-3,561,464 , GRCh37.p13 chr17: 3,504,346-3,504,346 CTNS, TRPV1, 1 more genes
    nsv5318159copy number variation1nstd204human GRCh37.p13 chr17: 3,504,336-3,561,467 , GRCh38.p13 chr17: 3,601,042-3,658,173 CTNS, TRPV1, 4 more genes
    nsv5282455copy number variation1nstd204human GRCh37.p13 chr17: 3,504,295-3,561,494 , GRCh38.p13 chr17: 3,601,001-3,658,200 CTNS, TRPV1, 4 more genes
    nsv5189730mobile element insertion1nstd203human GRCh38 chr17: 3,639,667-3,639,667 , GRCh37.p13 chr17: 3,542,961-3,542,961 CTNS, LOC105371493
    nsv5140581mobile element insertion1nstd203human GRCh38 chr17: 3,651,973-3,651,982 , GRCh37.p13 chr17: 3,555,267-3,555,276 CTNS, CTNS-AS1, 1 more genes
    nsv5023546copy number variation1nstd200human GRCh38 chr17: 2,625,215-3,955,356 , GRCh37.p13 chr17: 2,528,509-3,858,650 OR1D3P, OR1E1, 47 more genes
    nsv5015521copy number variation1nstd200human GRCh38 chr17: 3,616,778-3,654,649 , GRCh37.p13 chr17: 3,520,072-3,557,943 CTNS, CTNS-AS1, 3 more genes
    nsv4857769copy number variation1nstd200human GRCh37 chr17: 3,562,574-3,562,631 , GRCh38.p12 chr17: 3,659,280-3,659,337 CTNS
    nsv4857766copy number variation1nstd200human GRCh37 chr17: 3,504,346-3,561,464 , GRCh38.p12 chr17: 3,601,052-3,658,170 CTNS, TRPV1, 4 more genes
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