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Items: 1 to 20 of 259

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148150copy number variation1nstd102humanPathogenic GRCh37 chr22: 50,014,114-51,244,066 , GRCh38.p12 chr22: 49,620,466-50,805,638 MAPK11, KLHDC7B-DT, 54 more genes
    nsv7065076inversion1nstd229human GRCh38 chr22: 50,737,291-50,758,897 , GRCh37.p13 chr22: 51,175,719-51,197,325 ACR, LOC105373100, 2 more genes
    nsv7036631copy number variation1nstd229human GRCh38 chr22: 50,775,186-50,776,670 , GRCh37.p13 chr22|NW_004070876.1: 10,261-11,745 , GRCh37.p13 chr22: 51,213,614-51,215,098 RABL2B, RPL23AP82
    nsv7029776copy number variation1nstd229human GRCh38 chr22: 50,756,532-50,756,560 , GRCh37.p13 chr22: 51,194,960-51,194,988 RPL23AP82
    nsv7024853copy number variation1nstd229human GRCh38 chr22: 50,758,980-50,775,399 , GRCh37.p13 chr22: 51,203,354-51,213,827 , GRCh37.p13 chr22|NW_004070876.1: 1-10,474 RPL23AP82, RABL2B
    nsv7024372copy number variation1nstd229human GRCh38 chr22: 50,724,051-50,779,604 , GRCh37.p13 chr22: 51,162,479-51,203,353 LOC105373100, SHANK3, 4 more genes
    nsv7020643copy number variation1nstd229human GRCh38 chr22: 50,783,302-50,789,402 , GRCh37.p13 chr22|NW_004070876.1: 18,377-24,477 , GRCh37.p13 chr22: 51,221,730-51,227,830 RPL23AP82, RABL2B
    nsv6637710copy number variation1nstd102humanPathogenic GRCh37 chr22: 45,977,448-51,197,838 , GRCh38.p12 chr22: 45,581,568-50,759,410 PKDREJ, MAPK11, 110 more genes
    nsv6637355copy number variation1nstd102humanPathogenic GRCh37 chr22: 45,889,148-51,197,838 , GRCh38.p12 chr22: 45,493,268-50,759,410 LOC105373068, SYCE3, 111 more genes
    nsv6552194copy number variation1nstd223human GRCh38 chr22: 50,794,601-50,796,600 , GRCh37.p13 chr22|NW_004070876.1: 29,676-31,675 , GRCh37.p13 chr22: 51,233,029-51,235,028 RPL23AP82
    nsv6550044copy number variation1nstd223human GRCh38 chr22: 50,771,192-50,771,426 , GRCh37.p13 chr22: 51,209,620-51,209,854 , GRCh37.p13 chr22|NW_004070876.1: 6,267-6,501 RPL23AP82, RABL2B
    nsv6537871copy number variation1nstd223human GRCh38 chr22: 50,757,501-50,758,000 , GRCh37.p13 chr22: 51,195,929-51,196,428 RPL23AP82
    nsv6537106copy number variation1nstd223human GRCh38 chr22: 50,783,302-50,789,402 , GRCh37.p13 chr22|NW_004070876.1: 18,377-24,477 , GRCh37.p13 chr22: 51,221,730-51,227,830 RPL23AP82, RABL2B
    nsv6535863copy number variation1nstd223human GRCh38 chr22: 50,759,815-50,760,402 , GRCh37.p13 chr22: 51,198,243-51,198,830 RPL23AP82
    nsv6535590copy number variation1nstd223human GRCh38 chr22: 48,991,693-50,757,224 , GRCh37.p13 chr22: 49,387,505-51,195,652 CHKB-CPT1B, LOC105373096, 57 more genes
    nsv6315546copy number variation1nstd102humanPathogenic GRCh37 chr22: 51,121,452-51,197,838 , GRCh38.p12 chr22: 50,683,024-50,759,410 , GRCh38.p12 chr22|NW_015148969.1: 19,816-95,522 ACR, SHANK3, 4 more genes
    nsv6315085copy number variation1nstd102humanUncertain significance GRCh37 chr22: 51,207,204-51,220,722 , GRCh38.p12 chr22: 50,768,776-50,782,294 RPL23AP82, RABL2B
    nsv6314059copy number variation1nstd102humanPathogenic GRCh37 chr22: 42,972,719-51,197,838 , GRCh38.p12 chr22: 42,576,713-50,759,410 TRABD, LOC100422416, 181 more genes
    nsv6313993copy number variation1nstd102humanPathogenic GRCh37 chr22: 51,127,903-51,197,838 , GRCh38.p12 chr22: 50,689,475-50,759,410 , GRCh38.p12 chr22|NW_015148969.1: 25,386-95,522 ACR, SHANK3, 4 more genes
    nsv6313937copy number variation1nstd102humanPathogenic GRCh37 chr22: 49,729,747-51,197,838 , GRCh38.p12 chr22: 49,333,822-50,759,410 LOC150417, ARSA, 54 more genes
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