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Items: 1 to 20 of 225

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5878644copy number variation1nstd209human GRCh38 chr2: 61,865,373-61,874,403 , GRCh37.p13 chr2: 62,092,508-62,101,538 CCT4
    nsv5833677copy number variation1nstd209human GRCh38 chr2: 61,865,371-61,873,953 , GRCh37.p13 chr2: 62,092,506-62,101,088 CCT4
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5451565copy number variation1nstd206human GRCh38 chr2: 61,873,825-61,873,990 , GRCh37.p13 chr2: 62,100,960-62,101,125 CCT4
    nsv5449446copy number variation1nstd206human GRCh38 chr2: 61,881,422-61,882,259 , GRCh37.p13 chr2: 62,108,557-62,109,394 CCT4
    nsv5212850copy number variation1nstd204human GRCh38.p13 chr2: 61,414,101-61,980,100 , GRCh37.p13 chr2: 61,641,236-62,207,235 USP34-DT, LOC647077, 14 more genes
    nsv4770407copy number variation1nstd200human GRCh37 chr2: 62,108,597-62,109,325 , GRCh38.p12 chr2: 61,881,462-61,882,190 CCT4
    nsv4674748copy number variation1nstd102humanUncertain significance GRCh37 chr2: 61,523,951-62,262,243 , GRCh38.p12 chr2: 61,296,816-62,035,108 USP34, CCT4, 14 more genes
    nsv4586319copy number variation1nstd183human GRCh37 chr2: 62,106,144-62,107,665 , GRCh38.p12 chr2: 61,879,009-61,880,530 CCT4
    nsv4452103copy number variation1nstd102humanUncertain significance GRCh37 chr2: 61,968,083-62,238,312 , GRCh38.p12 chr2: 61,740,948-62,011,177 LOC105374760, CCT4, 6 more genes
    nsv4396815copy number variation1nstd174human GRCh37 chr2: 62,108,472-62,109,368 , GRCh38.p12 chr2: 61,881,337-61,882,233 CCT4
    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
    nsv4053759copy number variation1nstd166human GRCh37.p13 chr2: 62,116,057-62,116,604 , GRCh38.p12 chr2: 61,888,922-61,889,469 CCT4, COMMD1
    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
    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
    nsv3902458copy number variation1nstd102humanPathogenic GRCh37 chr2: 59,885,981-62,563,218 , NCBI36 chr2: 59,739,485-62,416,722 , GRCh38 chr2: 59,658,846-62,336,083 MIR4432, PEX13, 48 more genes
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