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Items: 1 to 20 of 260

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096197copy number variation1nstd102humanPathogenic GRCh37 chr2: 127,806,102-129,076,137 , GRCh38.p12 chr2: 127,048,526-128,318,563 IWS1, ZFP91P1, 35 more genes
    nsv7095853copy number variation1nstd102humanPathogenic GRCh37 chr2: 127,451,420-129,076,137 , GRCh38.p12 chr2: 126,693,844-128,318,563 SRMP3, DYNLT3P2, 41 more genes
    nsv7056053inversion1nstd229human GRCh38 chr2: 127,478,636-127,828,579 , GRCh37.p13 chr2: 128,236,212-128,586,153 MYO7B, IWS1, 7 more genes
    nsv7051453inversion1nstd229human GRCh38 chr2: 127,202,996-128,332,828 , GRCh37.p13 chr2: 127,960,572-129,090,402 WDR33, RNU4-48P, 32 more genes
    nsv7043911inversion1nstd229human GRCh38 chr2: 127,560,469-127,828,747 , GRCh37.p13 chr2: 128,318,044-128,586,321 LIMS2, SFT2D3, 6 more genes
    nsv7040291inversion1nstd229human GRCh38 chr2: 127,202,908-127,840,585 , GRCh37.p13 chr2: 127,960,484-128,598,159 LIMS2, LOC101927834, 18 more genes
    nsv6697324copy number variation1nstd229human GRCh38 chr2: 127,637,217-127,637,254 , GRCh37.p13 chr2: 128,394,792-128,394,829 LIMS2, MYO7B
    nsv6695725copy number variation1nstd229human GRCh38 chr2: 127,674,610-127,675,026 , GRCh37.p13 chr2: 128,432,184-128,432,600 LIMS2
    nsv6693427copy number variation1nstd229human GRCh38 chr2: 127,674,882-127,680,206 , GRCh37.p13 chr2: 128,432,456-128,437,780 LIMS2
    nsv6689933copy number variation1nstd229human GRCh38 chr2: 127,414,334-127,642,627 , GRCh37.p13 chr2: 128,171,910-128,400,202 LIMS2, LOC101927834, 7 more genes
    nsv6689318copy number variation1nstd229human GRCh38 chr2: 127,423,001-127,702,100 , GRCh37.p13 chr2: 128,180,577-128,459,674 LOC101927834, MIR4783, 10 more genes
    nsv6688828copy number variation1nstd229human GRCh38 chr2: 127,436,502-128,393,799 , GRCh37.p13 chr2: 128,194,078-129,151,373 LOC107985944, LOC105373610, 25 more genes
    nsv6684024copy number variation1nstd229human GRCh38 chr2: 127,423,201-127,710,800 , GRCh37.p13 chr2: 128,180,777-128,468,374 MYO7B, PROC, 10 more genes
    nsv6682671copy number variation1nstd229human GRCh38 chr2: 127,641,374-127,648,740 , GRCh37.p13 chr2: 128,398,949-128,406,315 GPR17, LIMS2
    nsv6681817copy number variation1nstd229human GRCh38 chr2: 127,640,489-127,647,367 , GRCh37.p13 chr2: 128,398,064-128,404,942 GPR17, LIMS2
    nsv6354361copy number variation1nstd223human GRCh38 chr2: 127,667,265-127,669,989 , GRCh37.p13 chr2: 128,424,839-128,427,563 LIMS2
    nsv6348549copy number variation1nstd223human GRCh38 chr2: 127,642,488-127,647,875 , GRCh37.p13 chr2: 128,400,063-128,405,450 GPR17, LIMS2
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6314748copy number variation1nstd102humanPathogenic GRCh37 chr2: 112,475,655-145,691,999 , GRCh38.p12 chr2: 111,718,078-144,934,432 MED15P9, TMEM37, 474 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
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