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Items: 1 to 20 of 218

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137788copy number variation1nstd102humanPathogenic GRCh37 chr2: 24,601,818-43,466,284 , GRCh38.p12 chr2: 24,378,949-43,239,145 GTF3C2-AS1, MAPRE3-AS1, 316 more genes
    nsv6112680copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 24,881,528-43,460,021 , GRCh38.p12 chr2: 24,658,659-43,232,882 ADCY3, ALK, 314 more genes
    nsv5879210copy number variation1nstd209human GRCh38 chr2: 37,648,836-37,648,890 , GRCh37.p13 chr2: 37,875,979-37,876,033 CDC42EP3
    nsv5872328copy number variation1nstd209human GRCh38 chr2: 37,434,598-37,644,126 , GRCh37.p13 chr2: 37,661,741-37,871,269 CDC42EP3, LINC03063, 1 more genes
    nsv5833202copy number variation1nstd209human GRCh38 chr2: 37,630,240-37,641,732 , GRCh37.p13 chr2: 37,857,383-37,868,875 CDC42EP3
    nsv5451677copy number variation1nstd206human GRCh38 chr2: 37,645,205-37,645,291 , GRCh37.p13 chr2: 37,872,348-37,872,434 CDC42EP3
    nsv5359151translocation1nstd200human GRCh38 chr2: 37,671,621-37,671,621 , GRCh38 chr2: 37,671,553-37,671,553 , GRCh37.p13 chr2: 37,898,696-37,898,696 , GRCh37.p13 chr2: 37,898,764-37,898,764 CDC42EP3
    nsv5077911mobile element insertion1nstd203human GRCh38 chr2: 37,645,030-37,645,042 , GRCh37.p13 chr2: 37,872,173-37,872,185 CDC42EP3
    nsv4901229copy number variation1nstd200human GRCh38 chr2: 37,673,046-37,673,698 , GRCh37.p13 chr2: 37,900,189-37,900,841 CDC42EP3, LOC107985870
    nsv4901228copy number variation1nstd200human GRCh38 chr2: 37,660,922-37,661,952 , GRCh37.p13 chr2: 37,888,065-37,889,095 CDC42EP3
    nsv4788384copy number variation1nstd200human GRCh37 chr2: 37,869,710-37,869,952 , GRCh38.p12 chr2: 37,642,567-37,642,809 CDC42EP3
    nsv4776172copy number variation1nstd200human GRCh37 chr2: 37,900,189-37,900,841 , GRCh38.p12 chr2: 37,673,046-37,673,698 LOC107985870, CDC42EP3
    nsv4728619copy number variation1nstd102humanUncertain significance GRCh37 chr2: 36,432,453-38,182,274 , GRCh38.p12 chr2: 36,205,310-37,955,131 CDC42EP3, NDUFAF7, 30 more genes
    nsv4585867copy number variation1nstd183human GRCh37 chr2: 37,827,769-37,899,554 , GRCh38.p12 chr2: 37,600,626-37,672,411 CDC42EP3, LINC03063, 1 more genes
    nsv4583891copy number variation1nstd183human GRCh37 chr2: 37,897,774-37,899,765 , GRCh38.p12 chr2: 37,670,631-37,672,622 CDC42EP3, LOC107985870
    nsv4583890copy number variation1nstd183human GRCh37 chr2: 37,843,421-37,888,136 , GRCh38.p12 chr2: 37,616,278-37,660,993 CDC42EP3
    nsv4583524copy number variation1nstd183human GRCh37 chr2: 37,898,977-37,899,554 , GRCh38.p12 chr2: 37,671,834-37,672,411 LOC107985870, CDC42EP3
    nsv4535022insertion1nstd166human GRCh37.p13 chr2: 37,890,548-37,890,548 , GRCh38.p12 chr2: 37,663,405-37,663,405 CDC42EP3
    nsv4335876sequence alteration1nstd166human GRCh37.p13 chr2: 20,021,666-53,788,063 , GRCh38.p12 chr2: 19,821,905-53,560,926 , ADCY3, 531 more genes
    nsv4331174inversion1nstd166human GRCh37.p13 chr2: 36,139,982-53,112,348 , GRCh38.p12 chr2: 35,914,916-52,885,210 , ASS1P2, 247 more genes
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