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Items: 1 to 20 of 392

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7058085inversion1nstd229human GRCh38 chr2: 240,804,297-241,079,478 , GRCh37.p13 chr2: 241,743,714-242,018,893 MAB21L4, UICLM, 8 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
    nsv6709216copy number variation1nstd229human GRCh38 chr2: 241,084,101-241,092,200 , GRCh37.p13 chr2: 242,023,516-242,031,615 SNED1, MTERF4
    nsv6708874copy number variation1nstd229human GRCh38 chr2: 240,862,389-241,105,127 , GRCh37.p13 chr2: 241,801,806-242,044,542 SNED1-AS1, MAB21L4, 8 more genes
    nsv6706015copy number variation1nstd229human GRCh38 chr2: 241,099,143-241,108,617 , GRCh37.p13 chr2: 242,038,558-242,048,032 MTERF4, PASK
    nsv6698823copy number variation1nstd229human GRCh38 chr2: 241,076,878-241,078,226 , GRCh37.p13 chr2: 242,016,293-242,017,641 MTERF4, SNED1
    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
    nsv6636343copy number variation1nstd102humanUncertain significance GRCh37 chr2: 241,804,802-242,022,653 , GRCh38.p12 chr2: 240,865,385-241,083,238 MTERF4, MAB21L4, 7 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
    nsv6345300copy number variation1nstd223human GRCh38 chr2: 241,077,005-241,078,200 , GRCh37.p13 chr2: 242,016,420-242,017,615 SNED1, MTERF4
    nsv6337901copy number variation1nstd223human GRCh38 chr2: 241,078,122-241,078,851 , GRCh37.p13 chr2: 242,017,537-242,018,266 MTERF4, SNED1
    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
    nsv6311659copy number variation2nstd102humanUncertain significance GRCh37 chr2: 238,233,417-242,800,990 , GRCh38.p12 chr2: 237,324,774-241,858,838 COPS9, LOC105373977, 107 more genes
    nsv6311563copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chr2: 236,403,331-242,801,596 , GRCh38.p12 chr2: 235,494,687-241,859,444 HDAC4-AS1, COPS8-DT, 134 more genes
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