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Items: 1 to 20 of 143

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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
    nsv6252747mobile element insertion1nstd215human GRCh38 chr2: 95,117,530-95,117,530 , GRCh37.p13 chr2: 95,783,275-95,783,275 MRPS5
    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
    nsv5874138copy number variation1nstd209human GRCh38 chr2: 95,087,112-95,090,721 , GRCh37.p13 chr2: 95,752,857-95,756,466 MRPS5
    nsv5694150mobile element insertion2nstd211human GRCh38 chr2: 95,104,776-95,104,776 , GRCh37.p13 chr2: 95,770,521-95,770,521 MRPS5
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5548305insertion1nstd206human GRCh38 chr2: 95,090,720-95,090,720 , GRCh37.p13 chr2: 95,756,465-95,756,465 MRPS5
    nsv5299522copy number variation1nstd204human GRCh38.p13 chr2: 95,104,962-95,113,174 , GRCh37.p13 chr2: 95,770,707-95,778,919 MRPS5
    nsv5216618copy number variation1nstd204human GRCh38.p13 chr2: 95,094,533-95,130,143 , GRCh37.p13 chr2: 95,760,278-95,795,888 ZNF514, MRPS5
    nsv5214886copy number variation1nstd204human GRCh38.p13 chr2: 95,076,629-95,097,385 , GRCh37.p13 chr2: 95,742,374-95,763,130 LOC105373488, MRPS5
    nsv5206753copy number variation1nstd204human GRCh38.p13 chr2: 95,103,310-95,112,644 , GRCh37.p13 chr2: 95,769,055-95,778,389 MRPS5
    nsv5035923inversion1nstd200human GRCh38 chr2: 83,726,586-172,391,178 , GRCh37.p13 chr2: 83,953,710-173,255,906 , MTND2P21, 1427 more genes
    nsv4908113copy number variation1nstd200human GRCh38 chr2: 95,114,462-95,116,072 , GRCh37.p13 chr2: 95,780,207-95,781,817 MRPS5
    nsv4781648copy number variation1nstd200human GRCh37 chr2: 95,771,052-95,778,708 , GRCh38.p12 chr2: 95,105,307-95,112,963 MRPS5
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