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Items: 1 to 20 of 220

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7147466insertion1nstd232human GRCh37.p13 chr2: 128,244,240-128,244,240 , GRCh38.p12 chr2: 127,486,664-127,486,664 IWS1
    nsv7147073insertion1nstd232human GRCh37.p13 chr2: 128,261,152-128,261,152 , GRCh38.p12 chr2: 127,503,576-127,503,576 IWS1
    nsv7140432insertion1nstd232human GRCh37.p13 chr2: 128,253,723-128,253,723 , GRCh38.p12 chr2: 127,496,147-127,496,147 IWS1
    nsv7139172insertion1nstd232human GRCh37.p13 chr2: 128,247,519-128,247,519 , GRCh38.p12 chr2: 127,489,943-127,489,943 IWS1
    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
    nsv7055804inversion1nstd229human GRCh38 chr2: 127,449,381-127,615,368 , GRCh37.p13 chr2: 128,206,957-128,372,943 RNU4-48P, IWS1, 3 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
    nsv7050219inversion1nstd229human GRCh38 chr2: 127,462,852-127,486,594 , GRCh37.p13 chr2: 128,220,428-128,244,170 LOC105373608, RNU4-48P, 1 more genes
    nsv7043966inversion1nstd229human GRCh38 chr2: 126,566,988-127,499,352 , GRCh37.p13 chr2: 127,324,565-128,256,928 LOC105373608, ERCC3, 19 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
    nsv6695428copy number variation1nstd229human GRCh38 chr2: 127,140,273-127,513,178 , GRCh37.p13 chr2: 127,897,849-128,270,754 MAP3K2, RNU6-1147P, 10 more genes
    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
    nsv6681026copy number variation1nstd229human GRCh38 chr2: 127,513,107-127,518,148 , GRCh37.p13 chr2: 128,270,683-128,275,724 IWS1
    nsv6552328inversion1nstd223human GRCh38 chr2: 127,459,347-127,614,079 , GRCh37.p13 chr2: 128,216,923-128,371,654 MYO7B, IWS1, 3 more genes
    nsv6535848inversion1nstd223human GRCh38 chr2: 127,491,453-127,492,427 , GRCh37.p13 chr2: 128,249,029-128,250,003 IWS1
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