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Items: 1 to 20 of 120

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5558142mobile element insertion1nstd206human GRCh38 chr2: 102,295,972-141,288,199 , GRCh37.p13 chr2: 102,912,432-142,045,768 , LOC105373587, 623 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
    nsv5035923inversion1nstd200human GRCh38 chr2: 83,726,586-172,391,178 , GRCh37.p13 chr2: 83,953,710-173,255,906 , MTND2P21, 1427 more genes
    nsv5033955inversion1nstd200human GRCh38 chr2: 103,800,446-187,202,765 , GRCh37.p13 chr2: 104,416,904-188,067,492 , EDDM3CP, 1184 more genes
    nsv4879764inversion1nstd200human GRCh37 chr2: 104,416,904-188,067,492 , GRCh38.p12 chr2: 103,800,446-187,202,765 , ACMSD, 1184 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
    nsv4463316mobile element insertion1nstd166human GRCh37.p13 chr2: 105,948,017-105,948,017 , GRCh38.p12 chr2: 105,331,560-105,331,560 C2orf49-DT
    nsv4454805copy number variation1nstd102humanUncertain significance GRCh37 chr2: 102,917,327-106,755,564 , GRCh38.p12 chr2: 102,300,867-106,139,108 LOC105373521, LOC107985927, 53 more genes
    nsv4451036copy number variation1nstd102humanUncertain significance GRCh37 chr2: 104,816,400-106,617,614 , GRCh38.p12 chr2: 104,199,942-106,001,158 LINC02946, LOC105373529, 31 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
    nsv3908691copy number variation1nstd102humanUncertain significance NCBI36 chr2: 104,854,160-105,336,892 , GRCh37 chr2: 105,487,728-105,970,460 , GRCh38 chr2: 104,871,270-105,354,003 MRPS9-AS1, C2orf49-DT, 9 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
    nsv3906499copy number variation1nstd102humanPathogenic NCBI36 chr2: 100,361,404-108,455,759 , GRCh37 chr2: 100,994,972-109,089,327 , GRCh38 chr2: 100,378,510-108,472,871 LOC105373511, ANAPC1P6, 132 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
    nsv3901647copy number variation1nstd102humanBenign NCBI36 chr2: 105,221,923-106,134,988 , GRCh37 chr2: 105,855,491-106,768,556 , GRCh38 chr2: 105,239,034-106,152,100 C2orf49-DT, TGFBRAP1, 12 more genes
    nsv3901000copy number variation1nstd102humanUncertain significance NCBI36 chr2: 100,461,179-106,481,797 , GRCh38 chr2: 100,478,285-106,498,909 , GRCh37 chr2: 101,094,747-107,115,365 LOC107985926, BBIP1P1, 102 more genes
    nsv3900303copy number variation1nstd102humanPathogenic GRCh38 chr2: 101,234,070-105,679,157 , NCBI36 chr2: 101,216,964-105,662,046 , GRCh37 chr2: 101,850,532-106,295,614 CNOT11, LOC105373529, 68 more genes
    nsv3896706copy number variation1nstd102humanLikely pathogenic NCBI36 chr2: 104,364,612-107,295,347 , GRCh37 chr2: 104,998,180-107,928,915 , GRCh38 chr2: 104,381,722-107,312,459 CD8B2, FHL2, 49 more genes
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