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Items: 1 to 20 of 170

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7053883inversion1nstd229human GRCh38 chr2: 97,357,330-98,588,488 , GRCh37.p13 chr2: 98,087,758-99,204,951 COX5B, ZAP70, 18 more genes
    nsv7049314inversion1nstd229human GRCh38 chr2: 97,164,836-98,594,834 , GRCh37.p13 chr2: 97,830,573-99,211,297 LOC105373501, ATP5F1BP1, 23 more genes
    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
    nsv6628609copy number variation1nstd224human GRCh37 chr2: 98,013,814-98,275,876 , GRCh38.p12 chr2: 97,490,656-97,659,413 ANKRD36B, COX5B, 3 more genes
    nsv6628430copy number variation1nstd224human GRCh37 chr2: 98,013,814-98,274,529 , GRCh38.p12 chr2: 97,490,656-97,658,066 COX5B, ACTR1B, 3 more genes
    nsv6628242copy number variation2nstd224human GRCh37 chr2: 98,013,814-98,275,102 , GRCh38.p12 chr2: 97,490,656-97,658,639 COX5B, ACTR1B, 3 more genes
    nsv6628181copy number variation1nstd224human GRCh37 chr2: 98,017,804-98,273,676 , GRCh38.p12 chr2: 97,490,656-97,657,213 LOC105373499, ACTR1B, 3 more genes
    nsv6338650copy number variation1nstd223human GRCh38 chr2: 97,638,834-97,660,499 , GRCh37.p13 chr2: 98,255,297-98,276,962 ACTR1B, COX5B
    nsv6337810copy number variation1nstd223human GRCh38 chr2: 97,616,801-97,663,200 , GRCh37.p13 chr2: 98,233,264-98,279,663 COX5B, C2orf92, 3 more genes
    nsv6337203copy number variation1nstd223human GRCh38 chr2: 97,663,001-97,665,300 , GRCh37.p13 chr2: 98,279,464-98,281,763 RNU4-8P, C2orf92, 1 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
    nsv6134553copy number variation1nstd213human GRCh37 chr2: 98,030,000-98,730,001 , GRCh38.p12 chr2: 97,490,656-98,113,538 COX5B, RNU4-8P, 11 more genes
    nsv6134552copy number variation1nstd213human GRCh37 chr2: 97,970,000-98,960,001 , GRCh38.p12 chr2: 97,490,656-98,343,538 ATP5F1BP1, COX5B, 12 more genes
    nsv5967660inversion1nstd209human GRCh38 chr2: 97,579,662-98,035,557 , GRCh37.p13 chr2: 98,196,125-98,652,020 , COX5B, 10 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
    nsv5447591copy number variation1nstd206human GRCh38 chr2: 97,351,570-97,659,706 , GRCh37.p13 chr2: 98,087,738-98,276,169 UBE3AP1, LOC105373499, 8 more genes
    nsv5380538translocation1nstd200human GRCh38 chr2: 97,659,686-97,659,686 , GRCh38 chr2: 97,351,590-97,351,590 , GRCh37.p13 chr2: 98,276,149-98,276,149 , GRCh37.p13 chr2: 98,022,109-98,022,109 UBE3AP1, ACTR1B
    nsv5035923inversion1nstd200human GRCh38 chr2: 83,726,586-172,391,178 , GRCh37.p13 chr2: 83,953,710-173,255,906 , MTND2P21, 1427 more genes
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