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Items: 1 to 20 of 187

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5587211copy number variation1nstd207human GRCh38 chr17: 45,144,396-45,144,595 , GRCh37.p13 chr17: 43,221,763-43,221,962 ACBD4
    nsv5556253sequence alteration1nstd206human GRCh37.p13 chr17: 43,035,798-43,218,336 , GRCh38 chr17: 44,958,430-45,140,969 NMT1, C1QL1, 6 more genes
    nsv5554090sequence alteration1nstd206human GRCh38 chr17: 32,109,732-67,925,723 , GRCh37.p13 chr17: 30,436,751-65,921,839 , APOH, 1099 more genes
    nsv5532015copy number variation1nstd206human GRCh38 chr17: 45,134,542-45,140,726 , GRCh37.p13 chr17: 43,211,909-43,218,093 ACBD4
    nsv5520564copy number variation1nstd206human GRCh38 chr17: 45,144,403-45,144,596 , GRCh37.p13 chr17: 43,221,770-43,221,963 ACBD4
    nsv5345237translocation1nstd200human GRCh37 chr17: 43,219,819-43,219,819 , GRCh37 chr17: 43,219,738-43,219,738 , GRCh38.p12 chr17: 45,142,452-45,142,452 , GRCh38.p12 chr17: 45,142,371-45,142,371 ACBD4
    nsv5290533copy number variation1nstd204human GRCh38.p13 chr17: 45,134,454-45,139,953 , GRCh37.p13 chr17: 43,211,821-43,217,320 ACBD4
    nsv5288011copy number variation1nstd204human GRCh37.p13 chr17: 43,129,069-43,257,867 , GRCh38.p13 chr17: 45,051,701-45,180,500 NMT1, HEXIM1, 7 more genes
    nsv5146051mobile element insertion1nstd203human GRCh38 chr17: 45,143,050-45,143,065 , GRCh37.p13 chr17: 43,220,417-43,220,432 ACBD4
    nsv5016562copy number variation1nstd200human GRCh38 chr17: 45,135,625-45,135,684 , GRCh37.p13 chr17: 43,212,992-43,213,051 ACBD4
    nsv5016561copy number variation1nstd200human GRCh38 chr17: 45,134,521-45,140,741 , GRCh37.p13 chr17: 43,211,888-43,218,108 ACBD4
    nsv4867121copy number variation1nstd200human GRCh37 chr17: 43,208,183-43,208,564 , GRCh38.p12 chr17: 45,130,816-45,131,197 ACBD4, PLCD3
    nsv4628566copy number variation1nstd183human GRCh37 chr17: 43,209,748-43,213,359 , GRCh38.p12 chr17: 45,132,381-45,135,992 ACBD4, PLCD3
    nsv4628334copy number variation1nstd183human GRCh37 chr17: 43,209,748-43,210,040 , GRCh38.p12 chr17: 45,132,381-45,132,673 PLCD3, ACBD4
    nsv4623372copy number variation1nstd183human GRCh37 chr17: 43,211,728-43,217,965 , GRCh38.p12 chr17: 45,134,361-45,140,598 ACBD4
    nsv4619192copy number variation1nstd183human GRCh37 chr17: 43,209,967-43,210,042 , GRCh38.p12 chr17: 45,132,600-45,132,675 PLCD3, ACBD4
    nsv4330632inversion1nstd166human GRCh37.p13 chr17: 18,838,526-72,042,289 , GRCh38.p12 chr17: 18,935,213-74,046,150 , ACACA, 1499 more genes
    nsv3920797copy number variation1nstd102humanPathogenic GRCh37 chr17: 43,005,866-43,377,096 , NCBI36 chr17: 40,361,392-40,732,879 , GRCh38 chr17: 44,928,498-45,299,730 HEXIM2, KIF18B, 18 more genes
    nsv3918486copy number variation1nstd102humanUncertain significance GRCh38 chr17: 44,906,235-45,220,406 , NCBI36 chr17: 40,339,129-40,653,556 , GRCh37 chr17: 42,983,603-43,297,773 GFAP, MIR6783, 16 more genes
    nsv3914783copy number variation1nstd102humanPathogenic NCBI36 chr17: 16,698,288-78,654,742 , GRCh37.p13 chr17: 16,757,563-81,048,189 , GRCh38.p12 chr17: 16,854,249-83,103,577 LOC105371922, GJD3, 1855 more genes
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