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Items: 1 to 20 of 245

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7053948inversion1nstd229human GRCh38 chr2: 236,325,891-239,580,552 , GRCh37.p13 chr2: 237,234,534-240,502,246 PER2, MIR4269, 60 more genes
    nsv7047549inversion1nstd229human GRCh38 chr2: 236,010,287-240,118,231 , GRCh37.p13 chr2: 236,918,931-241,057,648 RAB17, COL6A3, 74 more genes
    nsv7046600inversion1nstd229human GRCh38 chr2: 237,108,675-239,672,919 , GRCh37.p13 chr2: 238,017,318-240,594,613 RBM44, MIR4440, 46 more genes
    nsv6718002copy number variation1nstd229human GRCh38 chr2: 238,041,301-238,796,100 , GRCh37.p13 chr2: 238,949,942-239,704,741 LOC105373963, SCLY, 18 more genes
    nsv6714861copy number variation1nstd229human GRCh38 chr2: 238,423,503-238,428,623 , GRCh37.p13 chr2: 239,332,144-239,337,264 ASB1
    nsv6701870copy number variation1nstd229human GRCh38 chr2: 235,899,114-238,770,175 , GRCh37.p13 chr2: 236,807,758-239,678,816 RN7SL204P, RBM44, 55 more genes
    nsv6699181copy number variation1nstd229human GRCh38 chr2: 238,353,180-238,522,368 , GRCh37.p13 chr2: 239,261,821-239,431,009 RNU6-234P, LOC107986003, 4 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
    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
    nsv6291434copy number variation1nstd102humanPathogenic GRCh37 chr2: 237,499,041-242,783,384 , GRCh38.p12 chr2: 236,590,398-241,841,232 LINC01107, COL6A3, 118 more genes
    nsv6149975copy number variation1nstd214human GRCh38 chr2: 238,450,795-238,450,879 , GRCh37.p13 chr2: 239,359,436-239,359,520 ASB1, LOC107986003
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