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Items: 1 to 20 of 168

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5929452copy number variation1nstd209human GRCh38 chr17: 6,412,133-13,962,466 , GRCh37.p13 chr17: 6,315,453-13,865,783 , PIK3R5-DT, 226 more genes
    nsv5518154copy number variation1nstd206human GRCh38 chr17: 7,200,922-7,654,532 , GRCh37.p13 chr17: 7,104,241-7,557,850 SNORA48, MPDU1-AS1, 47 more genes
    nsv5378403translocation1nstd200human GRCh38 chr6: 36,557,250-36,557,250 , GRCh38 chr17: 7,251,979-7,251,979 , GRCh37.p13 chr17: 7,155,298-7,155,298 , GRCh37.p13 chr6: 36,525,027-36,525,027 ELP5, CTDNEP1
    nsv5340854translocation1nstd200human GRCh37 chr6: 36,525,027-36,525,027 , GRCh37 chr17: 7,155,298-7,155,298 , GRCh38.p12 chr17: 7,251,979-7,251,979 , GRCh38.p12 chr6: 36,557,250-36,557,250 CTDNEP1, ELP5
    nsv5290958copy number variation1nstd204human GRCh38.p13 chr17: 7,211,201-7,361,200 , GRCh37.p13 chr17: 7,114,520-7,264,519 ACADVL, ELP5, 15 more genes
    nsv5283638copy number variation1nstd204human GRCh38.p13 chr17: 6,923,801-7,855,300 , GRCh37.p13 chr17: 6,827,120-7,758,618 , TNFSF12, 74 more genes
    nsv5023623copy number variation1nstd200human GRCh38 chr17: 7,248,163-7,256,060 , GRCh37.p13 chr17: 7,151,482-7,159,379 CTDNEP1, ELP5
    nsv5023622copy number variation1nstd200human GRCh38 chr17: 7,247,657-7,266,074 , GRCh37.p13 chr17: 7,150,976-7,169,393 ELP5, CLDN7, 1 more genes
    nsv4864499copy number variation1nstd200human GRCh37 chr17: 7,150,976-7,169,393 , GRCh38.p12 chr17: 7,247,657-7,266,074 ELP5, CLDN7, 1 more genes
    nsv4762422inversion1nstd199human GRCh37 chr17: 151-36,202,676 , GRCh38.p12 chr17: 150,358-36,446,544 , ABR, 1046 more genes
    nsv4729957copy number variation1nstd102humanPathogenic GRCh37 chr17: 7,014,481-7,283,233 , GRCh38.p12 chr17: 7,111,162-7,379,914 MIR324, SLC2A4, 20 more genes
    nsv4729929copy number variation1nstd102humanPathogenic GRCh37 chr17: 6,650,649-8,040,151 , GRCh38.p12 chr17: 6,747,330-8,136,833 CYB5D1, GPS2, 98 more genes
    nsv4683612copy number variation2nstd102humanUncertain significance GRCh37 chr17: 6,589,506-8,151,374 , GRCh38.p12 chr17: 6,686,187-8,248,056 ALOX12P2, DLG4, 124 more genes
    nsv4676022copy number variation1nstd102humanPathogenic GRCh37 chr17: 6,800,893-7,304,696 , GRCh38.p12 chr17: 6,897,574-7,401,377 DVL2, PHF23, 37 more genes
    nsv4631118copy number variation1nstd183human GRCh37 chr17: 6,995,135-7,236,381 , GRCh38.p12 chr17: 7,091,816-7,333,062 ELP5, EIF5A, 16 more genes
    nsv4629499copy number variation1nstd183human GRCh37 chr17: 7,140,717-7,146,967 , GRCh38.p12 chr17: 7,237,398-7,243,648 GABARAP, CTDNEP1, 1 more genes
    nsv4457820copy number variation1nstd102humanUncertain significance GRCh37 chr17: 6,826,243-7,311,408 , GRCh38.p12 chr17: 6,922,924-7,408,089 ASGR2, PHF23, 37 more genes
    nsv4420802copy number variation1nstd174human GRCh37 chr17: 6,995,135-7,360,300 , GRCh38.p12 chr17: 7,091,816-7,456,981 SLC2A4, DLG4, 30 more genes
    nsv4248228copy number variation1nstd166human GRCh37.p13 chr17: 7,137,000-7,157,000 , GRCh38.p12 chr17: 7,233,681-7,253,681 ELP5, DVL2, 3 more genes
    nsv4246431copy number variation1nstd166human GRCh37.p13 chr17: 7,144,782-7,145,555 , GRCh38.p12 chr17: 7,241,463-7,242,236 CTDNEP1, GABARAP
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