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Items: 1 to 20 of 164

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6636737copy number variation1nstd102humanUncertain significance GRCh37 chr2: 95,777,121-96,248,568 , GRCh38.p12 chr2: 95,111,376-95,582,820 LOC100421287, TRIM64FP, 17 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
    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
    nsv6313735copy number variation1nstd102humanUncertain significance GRCh37 chr2: 95,341,387-96,735,978 , GRCh38.p12 chr2: 94,675,662-96,070,230 TRIM43, SNX18P14, 48 more genes
    nsv6291149copy number variation1nstd102humanUncertain significance GRCh37 chr2: 95,341,686-96,193,214 , GRCh38.p12 chr2: 94,675,961-95,527,466 CYP4F32P, UBTFL5, 32 more genes
    nsv6134374copy number variation1nstd213human GRCh37 chr2: 95,650,000-97,860,001 , GRCh38.p12 chr2: 94,984,255-97,194,264 ADRA2B, DUSP2, 68 more genes
    nsv5877871copy number variation1nstd209human GRCh38 chr2: 95,270,633-95,272,569 , GRCh37.p13 chr2: 95,936,381-95,938,317 PROM2
    nsv5834135copy number variation1nstd209human GRCh38 chr2: 95,270,588-95,272,587 , GRCh37.p13 chr2: 95,936,336-95,938,335 PROM2
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5290565copy number variation1nstd204human GRCh38.p13 chr2: 95,270,613-95,272,590 , GRCh37.p13 chr2: 95,936,361-95,938,338 PROM2
    nsv5035923inversion1nstd200human GRCh38 chr2: 83,726,586-172,391,178 , GRCh37.p13 chr2: 83,953,710-173,255,906 , MTND2P21, 1427 more genes
    nsv4908121copy number variation1nstd200human GRCh38 chr2: 95,270,635-95,272,570 , GRCh37.p13 chr2: 95,936,383-95,938,318 PROM2
    nsv4777062copy number variation1nstd200human GRCh37 chr2: 95,936,383-95,938,318 , GRCh38.p12 chr2: 95,270,635-95,272,570 PROM2
    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
    nsv4673887copy number variation2nstd102humanUncertain significance GRCh37 chr2: 95,930,035-96,755,045 , GRCh38.p12 chr2: 95,264,287-96,089,297 ANKRD33BP1, FABP7P2, 24 more genes
    nsv4664356copy number variation1nstd186human GRCh37 chr2: 95,952,650-95,952,694 , GRCh38.p12 chr2: 95,286,902-95,286,946 PROM2
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