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Items: 1 to 20 of 569

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7098696insertion1nstd102humanLikely benign GRCh38 chr6: 135,438,517-135,438,517 , GRCh37 chr6: 135,759,655-135,759,655 AHI1
    nsv7097811copy number variation1nstd102humanPathogenic GRCh37 chr6: 135,679,250-135,754,414 , GRCh38.p12 chr6: 135,358,112-135,433,276 AHI1
    nsv7097419copy number variation1nstd102humanPathogenic GRCh37 chr6: 135,749,747-135,784,464 , GRCh38.p12 chr6: 135,428,609-135,463,326 AHI1
    nsv7097319copy number variation1nstd102humanUncertain significance GRCh37 chr6: 135,644,280-135,813,375 , GRCh38.p12 chr6: 135,323,142-135,492,237 AHI1, BTRCP1
    nsv7093179copy number variation1nstd102humanLikely pathogenic GRCh37 chr6: 135,754,395-135,763,719 , GRCh38.p12 chr6: 135,433,257-135,442,581 AHI1
    nsv7055514inversion1nstd229human GRCh38 chr6: 135,444,692-135,444,783 , GRCh37.p13 chr6: 135,765,830-135,765,921 AHI1
    nsv7049235inversion1nstd229human GRCh38 chr6: 135,421,551-135,421,594 , GRCh37.p13 chr6: 135,742,689-135,742,732 AHI1
    nsv6817814copy number variation1nstd229human GRCh38 chr6: 135,369,882-135,381,855 , GRCh37.p13 chr6: 135,691,020-135,702,993 AHI1
    nsv6816172copy number variation1nstd229human GRCh38 chr6: 135,262,901-135,349,300 , GRCh37.p13 chr6: 135,584,039-135,670,438 AHI1, BTRCP1
    nsv6816130copy number variation1nstd229human GRCh38 chr6: 135,491,144-135,491,305 , GRCh37.p13 chr6: 135,812,282-135,812,443 AHI1
    nsv6814996copy number variation1nstd229human GRCh38 chr6: 135,074,201-135,333,400 , GRCh37.p13 chr6: 135,395,339-135,654,538 MIR548A2, AHI1, 4 more genes
    nsv6814312copy number variation1nstd229human GRCh38 chr6: 135,428,703-135,429,090 , GRCh37.p13 chr6: 135,749,841-135,750,228 AHI1
    nsv6813174copy number variation1nstd229human GRCh38 chr6: 135,398,317-135,406,869 , GRCh37.p13 chr6: 135,719,455-135,728,007 AHI1
    nsv6808993copy number variation1nstd229human GRCh38 chr6: 135,286,401-135,297,600 , GRCh37.p13 chr6: 135,607,539-135,618,738 AHI1
    nsv6808553copy number variation1nstd229human GRCh38 chr6: 135,343,941-135,377,359 , GRCh37.p13 chr6: 135,665,079-135,698,497 AHI1
    nsv6808260copy number variation1nstd229human GRCh38 chr6: 135,356,416-135,365,396 , GRCh37.p13 chr6: 135,677,554-135,686,534 AHI1
    nsv6808250copy number variation1nstd229human GRCh38 chr6: 135,466,294-135,472,145 , GRCh37.p13 chr6: 135,787,432-135,793,283 AHI1
    nsv6808093copy number variation1nstd229human GRCh38 chr6: 135,438,518-135,442,183 , GRCh37.p13 chr6: 135,759,656-135,763,321 AHI1
    nsv6807715copy number variation1nstd229human GRCh38 chr6: 135,377,768-135,384,894 , GRCh37.p13 chr6: 135,698,906-135,706,032 AHI1
    nsv6807693copy number variation1nstd229human GRCh38 chr6: 135,447,808-135,452,491 , GRCh37.p13 chr6: 135,768,946-135,773,629 AHI1
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