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Items: 1 to 20 of 280

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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
    nsv6057900insertion1nstd212human GRCh38 chr2: 95,297,171-95,297,171 , GRCh37.p13 chr2: 95,962,919-95,962,919 KCNIP3
    nsv6056285insertion1nstd212human GRCh38 chr2: 95,297,222-95,297,222 , GRCh37.p13 chr2: 95,962,970-95,962,970 KCNIP3
    nsv5991133copy number variation1nstd212human GRCh38 chr2: 95,297,171-95,297,235 , GRCh37.p13 chr2: 95,962,919-95,962,983 KCNIP3
    nsv5885252copy number variation1nstd209human GRCh38 chr2: 95,321,267-95,321,328 , GRCh37.p13 chr2: 95,987,015-95,987,076 KCNIP3
    nsv5883019copy number variation1nstd209human GRCh38 chr2: 95,324,239-95,324,639 , GRCh37.p13 chr2: 95,989,987-95,990,387 KCNIP3
    nsv5871141copy number variation1nstd209human GRCh38 chr2: 95,331,604-95,339,365 , GRCh37.p13 chr2: 95,997,352-96,005,113 KCNIP3
    nsv5606326insertion1nstd207human GRCh38 chr2: 95,320,933-95,320,933 , GRCh37.p13 chr2: 95,986,681-95,986,681 KCNIP3
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5380530translocation1nstd200human GRCh38 chr2: 95,324,640-95,324,640 , GRCh38 chr2: 95,324,277-95,324,277 , GRCh37.p13 chr2: 95,990,025-95,990,025 , GRCh37.p13 chr2: 95,990,388-95,990,388 KCNIP3
    nsv5380529translocation1nstd200human GRCh38 chr2: 95,581,002-95,581,002 , GRCh38 chr2: 95,314,277-95,314,277 , GRCh37.p13 chr2: 95,980,025-95,980,025 , GRCh37.p13 chr2: 96,246,750-96,246,750 TRIM51JP, KCNIP3
    nsv5360907translocation1nstd200human GRCh38 chr2: 95,295,492-95,295,492 , GRCh38 chr2: 95,295,040-95,295,040 , GRCh37.p13 chr2: 95,961,240-95,961,240 , GRCh37.p13 chr2: 95,960,788-95,960,788 KCNIP3
    nsv5295394copy number variation1nstd204human GRCh38.p13 chr2: 95,324,290-95,324,665 , GRCh37.p13 chr2: 95,990,038-95,990,413 KCNIP3
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