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Items: 1 to 20 of 94

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6636315copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 95,341,388-100,340,514 , GRCh38.p12 chr2: 94,675,663-99,724,052 ADRA2B, ATP5F1BP1, 130 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
    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
    nsv5875162copy number variation1nstd209human GRCh38 chr2: 98,608,821-98,608,885 , GRCh37.p13 chr2: 99,225,284-99,225,348 COA5, UNC50
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5366450translocation1nstd200human GRCh38 chr12: 14,529,347-14,529,347 , GRCh38 chr2: 98,608,515-98,608,515 , GRCh37.p13 chr12: 14,682,281-14,682,281 , GRCh37.p13 chr2: 99,224,978-99,224,978 UNC50, PLBD1, 2 more genes
    nsv5035923inversion1nstd200human GRCh38 chr2: 83,726,586-172,391,178 , GRCh37.p13 chr2: 83,953,710-173,255,906 , MTND2P21, 1427 more genes
    nsv4766632inversion1nstd199human GRCh37 chr2: 87,997,505-112,010,501 , GRCh38.p12 chr1: 125,085,511-144,884,066 , GRCh38.p12 chr2: 87,697,986-111,252,924 , GRCh38.p12 chr9: 40,649,907-63,450,751 , GRCh38.p12 chr9: 40,649,751-63,450,622 , ADRA2B, 706 more genes
    nsv4752571inversion1nstd199human GRCh37 chr2: 87,550,795-112,295,517 , GRCh38.p12 chr1: 125,085,511-144,884,066 , GRCh38.p12 chr2: 87,323,672-111,537,940 , GRCh38.p12 chr9: 40,649,907-63,450,751 , GRCh38.p12 chr9: 40,649,751-63,450,622 , ADRA2B, 723 more genes
    nsv4743379copy number variation1nstd199human GRCh37 chr2: 88,481,090-124,440,189 , GRCh38.p12 chr9: 40,649,751-63,450,622 , GRCh38.p12 chr9: 40,649,907-63,450,751 , GRCh38.p12 chr1: 125,085,511-144,884,066 , GRCh38.p12 chr2: 88,181,571-123,682,613 , EIF2AK3, 861 more genes
    nsv4312591inversion1nstd166human GRCh37.p13 chr2: 97,201,014-102,197,203 , GRCh38.p12 chr2: 96,535,277-101,580,741 , CNGA3, 106 more genes
    nsv3965726copy number variation1nstd168human GRCh38 chr2: 98,602,679-98,663,547 , GRCh37.p13 chr2: 99,219,142-99,280,010 COA5, MGAT4A, 1 more genes
    nsv3922919copy number variation1nstd102humanUncertain significance NCBI36 chr2: 98,458,890-99,001,125 , GRCh37.p13 chr2: 99,092,458-99,634,693 , GRCh38.p12 chr2: 98,475,995-99,018,230 UNC50, INPP4A, 9 more genes
    nsv3910630copy number variation1nstd102humanPathogenic NCBI36 chr2: 50,739,936-242,751,149 , GRCh37.p13 chr2: 50,886,432-243,102,476 , GRCh38.p12 chr2: 50,659,294-242,160,331 DAZAP2P1, RPL36AP16, 2991 more genes
    nsv3907326copy number variation1nstd102humanPathogenic GRCh38 chr2: 97,672,522-110,211,318 , GRCh37 chr2: 98,288,985-110,968,895 , NCBI36 chr2: 97,655,417-110,326,184 RPL22P11, PANTR1, 212 more genes
    nsv3906654copy number variation1nstd102humanPathogenic GRCh38 chr2: 91,443,218-102,334,856 , NCBI36 chr2: 90,981,410-102,317,748 , GRCh37 chr2: 91,617,683-102,951,316 CHEK2P3, LMAN2L, 197 more genes
    nsv3902899copy number variation1nstd102humanPathogenic NCBI36 chr2: 94,707,984-111,076,455 , GRCh38 chr2: 94,678,532-110,602,409 , GRCh37 chr2: 95,344,257-111,359,986 MTCO3P45, RPS21P2, 325 more genes
    nsv3899291copy number variation1nstd102humanPathogenic GRCh37 chr2: 95,618,109-103,868,854 , GRCh38 chr2: 94,817,406-103,252,396 , NCBI36 chr2: 94,846,878-103,235,286 IGKV2OR2-10, RNU4-8P, 178 more genes
    nsv3895049copy number variation1nstd102humanLikely pathogenic NCBI36 chr2: 98,394,668-101,619,801 , GRCh37 chr2: 99,028,236-102,253,369 , GRCh38 chr2: 98,411,773-101,636,907 INPP4A, AFF3, 59 more genes
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