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Items: 1 to 20 of 142

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5933652copy number variation1nstd209human GRCh38 chr17: 58,087,220-58,089,138 , GRCh37.p13 chr17: 56,164,581-56,166,499 DYNLL2
    nsv5930052copy number variation1nstd209human GRCh38 chr17: 58,083,681-58,087,078 , GRCh37.p13 chr17: 56,161,042-56,164,439 DYNLL2, DYNLL2-DT
    nsv5554090sequence alteration1nstd206human GRCh38 chr17: 32,109,732-67,925,723 , GRCh37.p13 chr17: 30,436,751-65,921,839 , APOH, 1099 more genes
    nsv5530947copy number variation1nstd206human GRCh38 chr17: 58,087,223-58,089,139 , GRCh37.p13 chr17: 56,164,584-56,166,500 DYNLL2
    nsv5530211copy number variation1nstd206human GRCh38 chr17: 58,092,343-58,092,453 , GRCh37.p13 chr17: 56,169,704-56,169,814 DYNLL2
    nsv5515455copy number variation1nstd206human GRCh38 chr17: 58,083,683-58,087,079 , GRCh37.p13 chr17: 56,161,044-56,164,440 DYNLL2-DT, DYNLL2
    nsv5358993translocation1nstd200human GRCh38 chr17: 58,089,139-58,089,139 , GRCh38 chr17: 58,087,223-58,087,223 , GRCh37.p13 chr17: 56,164,584-56,164,584 , GRCh37.p13 chr17: 56,166,500-56,166,500 DYNLL2
    nsv5335413translocation1nstd200human GRCh37 chr17: 56,164,584-56,164,584 , GRCh37 chr17: 56,166,500-56,166,500 , GRCh38.p12 chr17: 58,087,223-58,087,223 , GRCh38.p12 chr17: 58,089,139-58,089,139 DYNLL2
    nsv4624483copy number variation1nstd183human GRCh37 chr17: 56,168,150-56,168,735 , GRCh38.p12 chr17: 58,090,789-58,091,374 DYNLL2
    nsv4573591mobile element insertion1nstd166human GRCh37.p13 chr17: 56,169,222-56,169,222 , GRCh38.p12 chr17: 58,091,861-58,091,861 DYNLL2
    nsv4330632inversion1nstd166human GRCh37.p13 chr17: 18,838,526-72,042,289 , GRCh38.p12 chr17: 18,935,213-74,046,150 , ACACA, 1499 more genes
    nsv4261681copy number variation1nstd166human GRCh37.p13 chr17: 56,158,334-56,158,876 , GRCh38.p12 chr17: 58,080,973-58,081,515 DYNLL2, DYNLL2-DT
    nsv3920623copy number variation1nstd102humanPathogenic GRCh37 chr17: 54,760,866-56,162,300 , NCBI36 chr17: 52,115,865-53,517,299 , GRCh38 chr17: 56,683,505-58,084,939 C17orf67, CUEDC1, 28 more genes
    nsv3917224copy number variation1nstd102humanPathogenic GRCh38 chr17: 56,958,745-58,171,125 , NCBI36 chr17: 52,391,105-53,603,485 , GRCh37 chr17: 55,036,106-56,248,486 MRPS23, MSX2P1, 24 more genes
    nsv3914957copy number variation1nstd102humanPathogenic GRCh37 chr17: 55,496,167-57,812,825 , GRCh38 chr17: 57,418,806-59,735,464 , NCBI36 chr17: 52,851,166-55,167,607 CLTC, LOC101927557, 67 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
    nsv3913552copy number variation1nstd102humanPathogenic GRCh38 chr17: 36,449,220-75,053,130 , NCBI36 chr17: 54,950,518-70,560,820 , GRCh37 chr17: 57,595,736-73,049,225 RNU6-131P, ZNF652, 1075 more genes
    nsv3911811copy number variation1nstd102humanPathogenic NCBI36 chr17: 31,824,931-78,654,742 , GRCh37.p13 chr17: 34,750,818-81,048,189 , GRCh38.p12 chr17: 36,382,248-83,103,577 PRPSAP1, CACNG1, 1350 more genes
    nsv3911563copy number variation1nstd102humanPathogenic NCBI36 chr17: 45,918,236-63,677,950 , GRCh37 chr17: 48,563,237-65,936,105 , GRCh38 chr17: 36,449,220-68,170,214 PLEKHH3, CHCT1, 958 more genes
    nsv3909511copy number variation1nstd102humanPathogenic GRCh37 chr17: 42,580,684-81,085,615 , GRCh38.p12 chr17: 44,503,316-83,137,846 FOXK2, SOCS3-DT, 958 more genes
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