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Items: 1 to 20 of 269

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7055496inversion1nstd229human GRCh38 chr2: 240,066,101-240,315,885 , GRCh37.p13 chr2: 241,005,518-241,255,302 OR5S1P, LOC105373968, 4 more genes
    nsv6717347copy number variation1nstd229human GRCh38 chr2: 239,568,270-240,373,052 , GRCh37.p13 chr2: 240,489,964-241,312,469 LINC02991, NDUFA10, 11 more genes
    nsv6712141copy number variation1nstd229human GRCh38 chr2: 240,048,501-240,481,500 , GRCh37.p13 chr2: 240,987,918-241,420,917 OTOS, MIR149, 10 more genes
    nsv6710725copy number variation1nstd229human GRCh38 chr2: 240,108,601-241,272,500 , GRCh37.p13 chr2: 241,048,018-242,211,915 LOC112268440, CAPN10-DT, 34 more genes
    nsv6710483copy number variation1nstd229human GRCh38 chr2: 240,133,862-240,134,067 , GRCh37.p13 chr2: 241,073,279-241,073,484 COPS9
    nsv6709825copy number variation1nstd229human GRCh38 chr2: 240,126,601-240,131,500 , GRCh37.p13 chr2: 241,066,018-241,070,917 COPS9
    nsv6709316copy number variation1nstd229human GRCh38 chr2: 240,071,301-240,260,700 , GRCh37.p13 chr2: 241,010,718-241,200,117 OTOS, LOC105373968, 4 more genes
    nsv6708858copy number variation1nstd229human GRCh38 chr2: 239,693,567-240,452,089 , GRCh37.p13 chr2: 240,615,261-241,391,506 OTOS, GPC1, 12 more genes
    nsv6707680copy number variation1nstd229human GRCh38 chr2: 240,126,601-240,498,100 , GRCh37.p13 chr2: 241,066,018-241,437,517 ANKMY1, MIR149, 7 more genes
    nsv6700441copy number variation1nstd229human GRCh38 chr2: 239,957,701-240,280,300 , GRCh37.p13 chr2: 240,897,118-241,219,717 OR6B2, COPS9, 7 more genes
    nsv6636841copy number variation1nstd102humanPathogenic GRCh37 chr2: 236,878,509-242,783,384 , GRCh38.p12 chr2: 235,969,865-241,841,232 COPS8-DT, MTND5P46, 128 more genes
    nsv6636673copy number variation1nstd102humanPathogenic GRCh37 chr2: 235,942,616-242,783,384 , GRCh38.p12 chr2: 235,033,972-241,841,232 LINC02991, OR6B3, 136 more genes
    nsv6634398copy number variation1nstd102humanPathogenic GRCh37 chr2: 239,229,304-243,199,373 , GRCh38.p12 chr2: 238,320,663-242,157,305 HDAC4-AS1, ING5, 92 more genes
    nsv6348430copy number variation1nstd223human GRCh38 chr2: 237,953,314-241,782,040 , GRCh37.p13 chr2: 238,861,956-242,721,455 HDLBP-AS1, TWIST2, 90 more genes
    nsv6346966copy number variation1nstd223human GRCh38 chr2: 239,693,567-240,452,089 , GRCh37.p13 chr2: 240,615,261-241,391,506 LOC107985836, OR6B3, 12 more genes
    nsv6315457copy number variation1nstd102humanPathogenic GRCh37 chr2: 236,472,789-242,783,384 , GRCh38.p12 chr2: 235,564,145-241,841,232 AGAP1, OR5S1P, 130 more genes
    nsv6315436copy number variation1nstd102humanPathogenic GRCh37 chr2: 233,227,837-242,783,384 , GRCh38.p12 chr2: 232,363,127-241,841,232 LOC105373929, LOC105373932, 204 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6314846copy number variation1nstd102humanPathogenic GRCh38 chr2: 236,710,422-242,106,504 , GRCh37.p13 chr2: 237,619,065-243,048,655 LINC01937, FAM240C, 126 more genes
    nsv6311660copy number variation3nstd102humanPathogenic, Uncertain significance GRCh37 chr2: 238,233,417-242,801,596 , GRCh38.p12 chr2: 237,324,774-241,859,444 LOC105373968, LOC100420500, 107 more genes
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