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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5876091copy number variation1nstd209human GRCh38 chr2: 61,185,574-61,187,357 , GRCh37.p13 chr2: 61,412,709-61,414,492 USP34, AHSA2P
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5280455copy number variation1nstd204human GRCh37.p13 chr2: 61,413,318-61,413,627 , GRCh38.p13 chr2: 61,186,183-61,186,492 AHSA2P, USP34
    nsv5030307inversion1nstd200human GRCh38 chr2: 48,550,793-61,622,055 , GRCh37.p13 chr2: 48,777,932-61,849,190 , MIR217, 146 more genes
    nsv4908731copy number variation1nstd200human GRCh38 chr2: 61,020,916-61,420,605 , GRCh37.p13 chr2: 61,248,051-61,647,740 PEX13, SANBR, 7 more genes
    nsv4901470copy number variation1nstd200human GRCh38 chr2: 61,186,193-61,186,470 , GRCh37.p13 chr2: 61,413,328-61,413,605 USP34, AHSA2P
    nsv4772334copy number variation1nstd200human GRCh37 chr2: 61,381,973-61,457,182 , GRCh38.p12 chr2: 61,154,838-61,230,047 C2orf74, C2orf74-AS1, 2 more genes
    nsv4770376copy number variation1nstd200human GRCh37 chr2: 61,413,328-61,413,605 , GRCh38.p12 chr2: 61,186,193-61,186,470 USP34, AHSA2P
    nsv4728236copy number variation1nstd102humanUncertain significance GRCh37 chr2: 61,343,158-61,409,905 , GRCh38.p12 chr2: 61,116,023-61,182,770 C2orf74, SANBR, 4 more genes
    nsv4674159copy number variation1nstd102humanUncertain significance GRCh37 chr2: 61,327,948-61,436,931 , GRCh38.p12 chr2: 61,100,813-61,209,796 LOC105374759, C2orf74, 5 more genes
    nsv4347155copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 57,445,335-62,733,206 , GRCh38.p12 chr2: 57,218,200-62,506,071 ATP1B3P1, PEX13, 66 more genes
    nsv4068417copy number variation1nstd166human GRCh37.p13 chr2: 61,406,440-61,406,537 , GRCh38.p12 chr2: 61,179,305-61,179,402 AHSA2P
    nsv4053074copy number variation1nstd166human GRCh37.p13 chr2: 61,414,414-61,448,786 , GRCh38.p12 chr2: 61,187,279-61,221,651 USP34, AHSA2P
    nsv3916821copy number variation1nstd102humanPathogenic NCBI36 chr2: 47,701,031-86,783,356 , GRCh37.p13 chr2: 47,847,527-86,929,845 , GRCh38.p12 chr2: 47,620,388-86,702,722 NAGK, NRXN1-DT, 595 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
    nsv3908436copy number variation1nstd102humanLikely pathogenic NCBI36 chr2: 60,439,952-61,785,075 , GRCh37 chr2: 60,586,448-61,931,571 , GRCh38 chr2: 60,359,313-61,704,436 ATP1B3P1, PEX13, 32 more genes
    nsv3908213copy number variation1nstd102humanUncertain significance NCBI36 chr2: 60,089,745-62,087,348 , GRCh37 chr2: 60,236,241-62,233,844 , GRCh38 chr2: 60,009,106-62,006,709 RPL21P33, LOC105374760, 41 more genes
    nsv3904784copy number variation1nstd102humanPathogenic NCBI36 chr2: 58,953,678-64,270,970 , GRCh37 chr2: 59,100,174-64,417,466 , GRCh38 chr2: 58,873,039-64,190,332 UGP2, C2orf74-AS1, 79 more genes
    nsv3903805copy number variation1nstd102humanBenign GRCh37 chr2: 7,635,254-88,005,418 , NCBI36 chr2: 7,552,705-87,786,533 , GRCh38 chr2: 7,495,123-87,705,899 LOC101927723, SANBR, 1246 more genes
    nsv3903187copy number variation1nstd102humanPathogenic NCBI36 chr2: 58,112,555-63,692,448 , GRCh38 chr2: 58,031,916-63,611,810 , GRCh37 chr2: 58,259,051-63,838,944 RPL31P30, RNU1-32P, 76 more genes
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