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Items: 1 to 20 of 263

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5980451copy number variation1nstd102humanLikely pathogenic GRCh37 chr14: 54,654,001-75,828,024 , GRCh38.p12 chr14: 54,187,283-75,361,321 ACTN1, ACYP1, 400 more genes
    nsv5934709copy number variation1nstd209human GRCh38 chr14: 60,460,070-60,460,174 , GRCh37.p13 chr14: 60,926,788-60,926,892 C14orf39
    nsv5704833mobile element insertion2nstd211human GRCh38 chr14: 60,482,454-60,482,454 , GRCh37.p13 chr14: 60,949,172-60,949,172 C14orf39
    nsv5596164copy number variation1nstd207human GRCh38 chr14: 60,434,372-60,434,422 , GRCh37.p13 chr14: 60,901,090-60,901,140 C14orf39
    nsv5562885inversion1nstd206human GRCh38 chr14: 60,447,090-60,475,008 , GRCh37.p13 chr14: 60,913,808-60,941,726 C14orf39
    nsv5511728copy number variation1nstd206human GRCh38 chr14: 60,460,072-60,460,175 , GRCh37.p13 chr14: 60,926,790-60,926,893 C14orf39
    nsv5500888copy number variation1nstd206human GRCh38 chr14: 60,434,524-60,434,730 , GRCh37.p13 chr14: 60,901,242-60,901,448 C14orf39
    nsv5499967copy number variation1nstd206human GRCh38 chr14: 60,448,669-60,451,412 , GRCh37.p13 chr14: 60,915,387-60,918,130 C14orf39
    nsv5427053mobile element insertion1nstd206human GRCh38 chr14: 60,482,454-60,482,505 , GRCh37.p13 chr14: 60,949,172-60,949,223 C14orf39
    nsv5374565translocation1nstd200human GRCh38 chr14: 60,492,417-60,492,417 , GRCh38 chr14: 60,492,644-60,492,644 , GRCh37.p13 chr14: 60,959,362-60,959,362 , GRCh37.p13 chr14: 60,959,135-60,959,135 C14orf39
    nsv5374564translocation1nstd200human GRCh38 chr14: 60,492,410-60,492,410 , GRCh38 chr14: 60,492,885-60,492,885 , GRCh37.p13 chr14: 60,959,128-60,959,128 , GRCh37.p13 chr14: 60,959,603-60,959,603 C14orf39
    nsv5309072copy number variation1nstd204human GRCh38.p13 chr14: 60,448,679-60,451,365 , GRCh37.p13 chr14: 60,915,397-60,918,083 C14orf39
    nsv5276327copy number variation1nstd204human GRCh38.p13 chr14: 60,433,510-60,434,541 , GRCh37.p13 chr14: 60,900,228-60,901,259 C14orf39
    nsv5273388copy number variation1nstd204human GRCh38.p13 chr14: 60,458,701-60,461,400 , GRCh37.p13 chr14: 60,925,419-60,928,118 C14orf39
    nsv5270176copy number variation1nstd204human GRCh38.p13 chr14: 60,448,481-60,451,520 , GRCh37.p13 chr14: 60,915,199-60,918,238 C14orf39
    nsv5269121copy number variation1nstd204human GRCh38.p13 chr14: 60,452,901-60,455,000 , GRCh37.p13 chr14: 60,919,619-60,921,718 C14orf39
    nsv5032025inversion1nstd200human GRCh38 chr14: 53,190,097-88,878,877 , GRCh37.p13 chr14: 53,656,815-89,345,221 , IFT43, 578 more genes
    nsv4999583copy number variation1nstd200human GRCh38 chr14: 60,486,854-60,499,718 , GRCh37.p13 chr14: 60,953,572-60,966,436 C14orf39, SALL4P7
    nsv4999582copy number variation1nstd200human GRCh38 chr14: 60,466,103-60,466,715 , GRCh37.p13 chr14: 60,932,821-60,933,433 C14orf39
    nsv4999581copy number variation1nstd200human GRCh38 chr14: 60,463,758-60,475,152 , GRCh37.p13 chr14: 60,930,476-60,941,870 C14orf39
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