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Items: 1 to 20 of 159

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7054657inversion1nstd229human GRCh38 chr2: 18,305,934-19,842,483 , GRCh37.p13 chr2: 18,487,200-20,042,244 OSR1, CISD1P1, 14 more genes
    nsv7046904inversion1nstd229human GRCh38 chr2: 18,589,871-18,590,185 , GRCh37.p13 chr2: 18,771,137-18,771,451 NT5C1B, NT5C1B-RDH14, 1 more genes
    nsv6675057copy number variation1nstd229human GRCh38 chr2: 18,577,301-18,580,900 , GRCh37.p13 chr2: 18,758,567-18,762,166 NT5C1B-RDH14, LOC105373456, 1 more genes
    nsv6674602copy number variation1nstd229human GRCh38 chr2: 18,553,497-18,559,769 , GRCh37.p13 chr2: 18,734,763-18,741,035 NT5C1B-RDH14, RDH14, 1 more genes
    nsv6669688copy number variation1nstd229human GRCh38 chr2: 18,556,645-18,556,867 , GRCh37.p13 chr2: 18,737,911-18,738,133 NT5C1B-RDH14, RDH14
    nsv6668020copy number variation1nstd229human GRCh38 chr2: 18,417,301-18,680,700 , GRCh37.p13 chr2: 18,598,567-18,861,966 RNU6-1215P, RDH14, 4 more genes
    nsv6666186copy number variation1nstd229human GRCh38 chr2: 18,583,886-18,638,349 , GRCh37.p13 chr2: 18,765,152-18,819,615 NT5C1B, LOC105373456, 2 more genes
    nsv6665163copy number variation1nstd229human GRCh38 chr2: 18,553,458-18,563,131 , GRCh37.p13 chr2: 18,734,724-18,744,397 NT5C1B, NT5C1B-RDH14, 2 more genes
    nsv6664889copy number variation1nstd229human GRCh38 chr2: 18,572,001-18,714,500 , GRCh37.p13 chr2: 18,753,267-18,895,766 NT5C1B-RDH14, RNU6-1215P, 2 more genes
    nsv6661549copy number variation1nstd229human GRCh38 chr2: 18,453,887-18,588,596 , GRCh37.p13 chr2: 18,635,153-18,769,862 RNU6-1215P, NT5C1B, 4 more genes
    nsv6659877copy number variation1nstd229human GRCh38 chr2: 18,374,093-18,752,297 , GRCh37.p13 chr2: 18,555,359-18,933,563 NT5C1B, NT5C1B-RDH14, 4 more genes
    nsv6636815copy number variation1nstd102humanPathogenic GRCh37 chr2: 706,460-35,523,639 , GRCh38.p12 chr2: 706,460-35,298,573 LOC105374455, RN7SL674P, 504 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
    nsv6354577copy number variation1nstd223human GRCh38 chr2: 18,556,301-18,592,900 , GRCh37.p13 chr2: 18,737,567-18,774,166 NT5C1B-RDH14, RDH14, 3 more genes
    nsv6349903copy number variation1nstd223human GRCh38 chr2: 18,489,322-18,561,111 , GRCh37.p13 chr2: 18,670,588-18,742,377 NT5C1B, LOC105373456, 3 more genes
    nsv6345406copy number variation1nstd223human GRCh38 chr2: 18,577,201-18,586,600 , GRCh37.p13 chr2: 18,758,467-18,767,866 LOC105373456, RNU6-1215P, 2 more genes
    nsv6343511copy number variation1nstd223human GRCh38 chr2: 18,553,494-18,559,768 , GRCh37.p13 chr2: 18,734,760-18,741,034 NT5C1B-RDH14, RDH14, 1 more genes
    nsv6343455copy number variation1nstd223human GRCh38 chr2: 18,553,401-18,593,000 , GRCh37.p13 chr2: 18,734,667-18,774,266 RDH14, RNU6-1215P, 3 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6306184insertion1nstd186human GRCh38.p12 chr2: 18,574,232-18,574,232 , GRCh37 chr2: 18,755,498-18,755,498 NT5C1B, NT5C1B-RDH14, 1 more genes
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