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Items: 1 to 20 of 210

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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
    nsv5944840copy number variation1nstd209human GRCh38 chr14: 67,559,201-67,559,322 , GRCh37.p13 chr14: 68,025,918-68,026,039 PLEKHH1
    nsv5942509copy number variation1nstd209human GRCh38 chr14: 67,569,373-67,569,476 , GRCh37.p13 chr14: 68,036,090-68,036,193 PLEKHH1
    nsv5937260copy number variation1nstd209human GRCh38 chr14: 67,536,095-67,537,566 , GRCh37.p13 chr14: 68,002,812-68,004,283 PLEKHH1
    nsv5931378copy number variation1nstd209human GRCh38 chr14: 67,255,048-67,637,246 , GRCh37.p13 chr14: 67,721,765-68,103,963 , MIR5694, 11 more genes
    nsv5865603copy number variation2nstd209human GRCh38 chr14: 67,536,079-67,537,178 , GRCh37.p13 chr14: 68,002,796-68,003,895 PLEKHH1
    nsv5657319insertion1nstd207human GRCh38 chr14: 67,569,373-67,569,373 , GRCh37.p13 chr14: 68,036,090-68,036,090 PLEKHH1
    nsv5598190copy number variation1nstd207human GRCh38 chr14: 67,536,095-67,537,565 , GRCh37.p13 chr14: 68,002,812-68,004,282 PLEKHH1
    nsv5512846copy number variation1nstd206human GRCh38 chr14: 67,569,373-67,569,485 , GRCh37.p13 chr14: 68,036,090-68,036,202 PLEKHH1
    nsv5507865copy number variation1nstd206human GRCh38 chr14: 67,568,425-67,573,583 , GRCh37.p13 chr14: 68,035,142-68,040,300 PLEKHH1
    nsv5507370copy number variation1nstd206human GRCh38 chr14: 67,583,033-67,583,098 , GRCh37.p13 chr14: 68,049,750-68,049,815 PLEKHH1
    nsv5501470copy number variation1nstd206human GRCh38 chr14: 67,536,095-67,537,567 , GRCh37.p13 chr14: 68,002,812-68,004,284 PLEKHH1
    nsv5500457copy number variation1nstd206human GRCh38 chr14: 67,552,951-67,553,083 , GRCh37.p13 chr14: 68,019,668-68,019,800 PLEKHH1
    nsv5380972copy number variation2nstd102humanUncertain significance GRCh37 chr14: 65,937,790-68,354,021 , GRCh38.p12 chr14: 65,471,072-67,887,304 RPL21P9, LOC100419668, 35 more genes
    nsv5374591translocation1nstd200human GRCh38 chr14: 67,604,021-67,604,021 , GRCh38 chr14: 67,566,365-67,566,365 , GRCh37.p13 chr14: 68,033,082-68,033,082 , GRCh37.p13 chr14: 68,070,738-68,070,738 , PLEKHH1
    nsv5357347translocation1nstd200human GRCh38 chr14: 67,534,632-67,534,632 , GRCh38 chr14: 67,534,554-67,534,554 , GRCh37.p13 chr14: 68,001,271-68,001,271 , GRCh37.p13 chr14: 68,001,349-68,001,349 PLEKHH1
    nsv5343285translocation1nstd200human GRCh37 chr14: 68,033,082-68,033,082 , GRCh37 chr14: 68,070,738-68,070,738 , GRCh38.p12 chr14: 67,604,021-67,604,021 , GRCh38.p12 chr14: 67,566,365-67,566,365 , PLEKHH1
    nsv5311040copy number variation1nstd204human GRCh38.p13 chr14: 67,536,088-67,537,569 , GRCh37.p13 chr14: 68,002,805-68,004,286 PLEKHH1
    nsv5279372copy number variation1nstd204human GRCh38.p13 chr14: 67,536,101-67,537,500 , GRCh37.p13 chr14: 68,002,818-68,004,217 PLEKHH1
    nsv5266926copy number variation1nstd204human GRCh38.p13 chr14: 67,536,179-67,537,463 , GRCh37.p13 chr14: 68,002,896-68,004,180 PLEKHH1
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