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Items: 1 to 20 of 107

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7141289copy number variation1nstd232human GRCh37.p13 chr2: 74,699,596-74,699,693 , GRCh38.p12 chr2: 74,472,469-74,472,566 CCDC142, MRPL53
    nsv7098872copy number variation1nstd102humanUncertain significance GRCh37 chr2: 73,716,761-75,347,894 , GRCh38.p12 chr2: 73,489,634-75,120,768 RTKN, PCGF1, 61 more genes
    nsv7096907copy number variation2nstd102humanPathogenic GRCh37 chr2: 72,359,356-74,779,761 , GRCh38.p12 chr2: 72,132,227-74,552,634 RNU6-111P, LOC105374800, 71 more genes
    nsv7096902copy number variation3nstd102humanPathogenic GRCh37 chr2: 71,004,499-74,779,761 , GRCh38.p12 chr2: 70,777,367-74,552,634 TAF13P2, LOC107985897, 100 more genes
    nsv7096520copy number variation1nstd102humanUncertain significance GRCh37 chr2: 69,240,632-74,779,761 , GRCh38.p12 chr2: 69,013,500-74,552,634 LOC112268419, DQX1, 140 more genes
    nsv7039989inversion1nstd229human GRCh38 chr2: 74,303,206-79,264,856 , GRCh37.p13 chr2: 74,530,333-79,491,982 WBP1, DCTN1-AS1, 80 more genes
    nsv6693990copy number variation1nstd229human GRCh38 chr2: 74,462,734-74,473,098 , GRCh37.p13 chr2: 74,689,861-74,700,225 MRPL53, MOGS, 1 more genes
    nsv6686690copy number variation1nstd229human GRCh38 chr2: 74,366,401-74,559,400 , GRCh37.p13 chr2: 74,593,528-74,786,527 DCTN1, CCDC142, 21 more genes
    nsv6683353copy number variation1nstd229human GRCh38 chr2: 74,468,501-74,471,000 , GRCh37.p13 chr2: 74,695,628-74,698,127 MRPL53, CCDC142
    nsv6679949copy number variation1nstd229human GRCh38 chr2: 74,368,859-74,528,317 , GRCh37.p13 chr2: 74,595,986-74,755,444 LBX2, WBP1, 18 more genes
    nsv6658277copy number variation1nstd229human GRCh38 chr2: 73,985,401-74,561,400 , GRCh37.p13 chr2: 74,212,528-74,788,527 MOGS, NECAP1P2, 32 more genes
    nsv6634330copy number variation1nstd102humanPathogenic GRCh37 chr2: 11,504,318-111,365,996 , GRCh38.p12 chr2: 11,364,192-110,608,419 CYP1B1-AS1, LOC107985771, 1649 more genes
    nsv6628141copy number variation1nstd224human GRCh37 chr2: 74,058,095-75,146,159 , GRCh38.p12 chr2: 73,830,968-74,919,032 AUP1, DCTN1, 48 more genes
    nsv6540852inversion1nstd223human GRCh38 chr2: 74,469,288-74,469,994 , GRCh37.p13 chr2: 74,696,415-74,697,121 MRPL53
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6314726copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 40,607,042-146,902,764 , GRCh38.p12 chr2: 40,379,902-146,145,196 ACTG2, ACYP2, 1713 more genes
    nsv6140128copy number variation1nstd206human GRCh38 chr2: 74,451,619-74,475,619 , GRCh37.p13 chr2: 74,678,746-74,702,746 MOGS, WBP1, 4 more genes
    nsv6134545copy number variation2nstd213human GRCh37 chr2: 47,990,000-75,070,001 , GRCh38.p12 chr2: 47,762,861-74,842,874 ACTG2, ACYP2, 438 more genes
    nsv6134457copy number variation1nstd213human GRCh37 chr2: 38,410,000-75,540,001 , GRCh38.p12 chr2: 38,182,858-75,312,875 , ACTG2, 598 more genes
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
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