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Items: 1 to 20 of 225

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7137126copy number variation1nstd102humanPathogenic GRCh37 chr17: 42,929,777-42,937,911 , GRCh38.p12 chr17: 44,852,409-44,860,543 EFTUD2
    nsv6996752copy number variation1nstd229human GRCh38 chr17: 44,583,598-44,869,402 , GRCh37.p13 chr17: 42,660,966-42,946,770 GJC1, CCDC43, 11 more genes
    nsv6989410copy number variation1nstd229human GRCh38 chr17: 44,888,610-44,893,645 , GRCh37.p13 chr17: 42,965,978-42,971,013 EFTUD2
    nsv6985360copy number variation1nstd229human GRCh38 chr17: 44,848,645-44,848,687 , GRCh37.p13 chr17: 42,926,013-42,926,055 EFTUD2, HIGD1B
    nsv6982861copy number variation1nstd229human GRCh38 chr17: 38,291,672-47,498,259 , GRCh37.p13 chr17: 36,510,266-45,575,625 KRT20, PLEKHH3, 442 more genes
    nsv6594674inversion1nstd223human GRCh38 chr17: 44,892,804-44,893,883 , GRCh37.p13 chr17: 42,970,172-42,971,251 EFTUD2
    nsv6579580inversion1nstd223human GRCh38 chr17: 44,874,044-44,875,218 , GRCh37.p13 chr17: 42,951,412-42,952,586 EFTUD2
    nsv6577696inversion1nstd223human GRCh38 chr17: 44,855,709-44,858,441 , GRCh37.p13 chr17: 42,933,077-42,935,809 EFTUD2
    nsv6314125copy number variation1nstd102humanPathogenic GRCh37 chr17: 42,953,220-42,972,444 , GRCh38.p12 chr17: 44,875,852-44,895,076 RN7SL405P, EFTUD2
    nsv6290455copy number variation1nstd102humanPathogenic GRCh38 chr17: 44,846,894-44,962,103 , GRCh37.p13 chr17: 42,924,262-43,039,471 RN7SL405P, LOC105371793, 8 more genes
    nsv5661505insertion1nstd207human GRCh38 chr17: 44,873,900-44,873,900 , GRCh37.p13 chr17: 42,951,268-42,951,268 EFTUD2
    nsv5554090sequence alteration1nstd206human GRCh38 chr17: 32,109,732-67,925,723 , GRCh37.p13 chr17: 30,436,751-65,921,839 , APOH, 1099 more genes
    nsv5520807copy number variation1nstd206human GRCh38 chr17: 44,896,385-44,896,954 , GRCh37.p13 chr17: 42,973,753-42,974,322 EFTUD2
    nsv5518983copy number variation1nstd206human GRCh38 chr17: 44,856,255-44,856,564 , GRCh37.p13 chr17: 42,933,623-42,933,932 EFTUD2
    nsv5326843copy number variation1nstd204human GRCh37.p13 chr17: 42,886,350-42,927,059 , GRCh38.p13 chr17: 44,808,982-44,849,691 EFTUD2, GJC1, 1 more genes
    nsv5284182copy number variation1nstd204human GRCh38.p13 chr17: 44,809,001-44,849,800 , GRCh37.p13 chr17: 42,886,369-42,927,168 HIGD1B, GJC1, 1 more genes
    nsv5147653mobile element insertion1nstd203human GRCh38 chr17: 44,873,906-44,873,939 , GRCh37.p13 chr17: 42,951,274-42,951,307 EFTUD2
    nsv5016550copy number variation1nstd200human GRCh38 chr17: 44,862,543-44,862,622 , GRCh37.p13 chr17: 42,939,911-42,939,990 EFTUD2
    nsv4867113copy number variation1nstd200human GRCh37 chr17: 42,886,377-42,927,030 , GRCh38.p12 chr17: 44,809,009-44,849,662 GJC1, EFTUD2, 1 more genes
    nsv4539742insertion1nstd166human GRCh37.p13 chr17: 42,951,274-42,951,274 , GRCh38.p12 chr17: 44,873,906-44,873,906 EFTUD2
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