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Items: 1 to 20 of 292

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6123103copy number variation1nstd186human GRCh37 chr14: 74,545,329-74,546,010 , GRCh38.p12 chr14: 74,078,626-74,079,307 BBOF1, ALDH6A1
    nsv6120896copy number variation1nstd186human GRCh37 chr14: 74,517,865-74,519,190 , GRCh38.p12 chr14: 74,051,162-74,052,487 BBOF1
    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
    nsv5974097insertion1nstd209human GRCh38 chr14: 74,059,379-74,059,379 , GRCh37.p13 chr14: 74,526,082-74,526,082 ALDH6A1, BBOF1
    nsv5947100copy number variation1nstd209human GRCh38 chr14: 74,078,630-74,079,348 , GRCh37.p13 chr14: 74,545,333-74,546,051 ALDH6A1, BBOF1
    nsv5859988copy number variation2nstd209human GRCh38 chr14: 74,051,064-74,052,463 , GRCh37.p13 chr14: 74,517,767-74,519,166 BBOF1
    nsv5849446copy number variation1nstd209human GRCh38 chr14: 74,045,864-74,046,963 , GRCh37.p13 chr14: 74,512,567-74,513,666 BBOF1
    nsv5730030mobile element insertion1nstd211human GRCh38 chr14: 74,059,695-74,059,695 , GRCh37.p13 chr14: 74,526,398-74,526,398 BBOF1, ALDH6A1
    nsv5696530mobile element insertion1nstd211human GRCh38 chr14: 74,023,337-74,023,337 , GRCh37.p13 chr14: 74,490,040-74,490,040 BBOF1
    nsv5509090copy number variation1nstd206human GRCh38 chr14: 74,051,115-74,052,580 , GRCh37.p13 chr14: 74,517,818-74,519,283 BBOF1
    nsv5505898copy number variation1nstd206human GRCh38 chr14: 74,036,993-74,045,584 , GRCh37.p13 chr14: 74,503,696-74,512,287 BBOF1
    nsv5504475copy number variation1nstd206human GRCh38 chr14: 74,053,637-74,063,486 , GRCh37.p13 chr14: 74,520,340-74,530,189 ALDH6A1, BBOF1
    nsv5494737copy number variation1nstd206human GRCh38 chr14: 74,078,626-74,079,307 , GRCh37.p13 chr14: 74,545,329-74,546,010 ALDH6A1, BBOF1
    nsv5393198copy number variation2nstd186human GRCh37 chr14: 74,517,867-74,519,186 , GRCh38.p12 chr14: 74,051,164-74,052,483 BBOF1
    nsv5392718copy number variation1nstd186human GRCh37 chr14: 74,545,399-74,545,996 , GRCh38.p12 chr14: 74,078,696-74,079,293 ALDH6A1, BBOF1
    nsv5374607translocation1nstd200human GRCh38 chr14: 74,052,850-74,052,850 , GRCh38 chr14: 74,070,677-74,070,677 , GRCh37.p13 chr14: 74,537,380-74,537,380 , GRCh37.p13 chr14: 74,519,553-74,519,553 BBOF1, ALDH6A1
    nsv5374606translocation1nstd200human GRCh38 chr14: 74,052,517-74,052,517 , GRCh38 chr14: 74,053,286-74,053,286 , GRCh37.p13 chr14: 74,519,989-74,519,989 , GRCh37.p13 chr14: 74,519,220-74,519,220 BBOF1
    nsv5337978translocation1nstd200human GRCh37 chr14: 74,519,220-74,519,220 , GRCh37 chr14: 74,519,989-74,519,989 , GRCh38.p12 chr14: 74,052,517-74,052,517 , GRCh38.p12 chr14: 74,053,286-74,053,286 BBOF1
    nsv5331428translocation1nstd200human GRCh37 chr14: 74,519,553-74,519,553 , GRCh37 chr14: 74,537,380-74,537,380 , GRCh38.p12 chr14: 74,070,677-74,070,677 , GRCh38.p12 chr14: 74,052,850-74,052,850 ALDH6A1, BBOF1
    nsv5304051copy number variation1nstd204human GRCh37.p13 chr14: 74,530,328-74,534,358 , GRCh38.p13 chr14: 74,063,625-74,067,655 ALDH6A1, BBOF1
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