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Items: 1 to 20 of 261

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148257copy number variation1nstd102humanPathogenic GRCh38 chr1: 242,164,274-245,299,473 , GRCh37.p13 chr1: 242,327,576-245,462,775 RN7SKP12, ZBTB18, 51 more genes
    nsv7148184copy number variation1nstd102humanPathogenic GRCh38 chr1: 243,221,458-248,919,110 , GRCh37.p13 chr1: 243,384,760-249,213,309 LOC105373271, LOC107985725, 153 more genes
    nsv7148158copy number variation1nstd102humanPathogenic GRCh38 chr1: 235,215,476-247,005,888 , GRCh37.p13 chr1: 235,378,791-247,169,190 RNU6-747P, LINC01139, 172 more genes
    nsv7146713copy number variation1nstd232human GRCh37.p13 chr1: 245,019,927-245,020,028 , GRCh38.p12 chr1: 244,856,625-244,856,726 HNRNPU
    nsv7146218copy number variation1nstd232human GRCh37.p13 chr1: 245,025,836-245,025,919 , GRCh38.p12 chr1: 244,862,534-244,862,617 HNRNPU
    nsv7144880insertion1nstd232human GRCh37.p13 chr1: 245,022,678-245,022,678 , GRCh38.p12 chr1: 244,859,376-244,859,376 HNRNPU
    nsv7099272copy number variation1nstd231human GRCh38.p12 chr1: 243,197,153-248,437,482 , GRCh37 chr1: 243,360,455-248,600,783 ADSS2, HNRNPU, 124 more genes
    nsv7098852copy number variation1nstd102humannot provided GRCh37 chr1: 245,016,933-245,028,969 , GRCh38.p12 chr1: 244,853,631-244,865,667 SNORA100, HNRNPU
    nsv7095608copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 245,025,750-245,027,576 , GRCh38.p12 chr1: 244,862,448-244,864,274 HNRNPU
    nsv7093289copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 245,026,806-245,027,467 , GRCh38 chr1: 244,863,504-244,864,165 HNRNPU
    nsv7093202copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 245,026,887-245,026,941 , GRCh38 chr1: 244,863,585-244,863,639 HNRNPU
    nsv7058013inversion1nstd229human GRCh38 chr1: 243,978,689-245,824,041 , GRCh37.p13 chr1: 244,141,991-245,987,343 LOC107985372, COX20, 30 more genes
    nsv7046897inversion1nstd229human GRCh38 chr1: 244,176,149-245,542,372 , GRCh37.p13 chr1: 244,339,451-245,705,674 EFCAB2, DESI2, 21 more genes
    nsv7042644inversion1nstd229human GRCh38 chr1: 242,956,479-245,125,990 , GRCh37.p13 chr1: 243,119,781-245,289,292 LINC02774, TGIF2P1, 36 more genes
    nsv7041330inversion1nstd229human GRCh38 chr1: 244,654,732-244,881,259 , GRCh37.p13 chr1: 244,818,034-245,044,561 DESI2, LOC107985372, 4 more genes
    nsv6637045copy number variation1nstd102humanPathogenic GRCh37 chr1: 243,085,543-247,137,125 , GRCh38.p12 chr1: 242,922,241-246,973,823 LOC105373258, RPL35AP6, 59 more genes
    nsv6636794copy number variation1nstd102humanPathogenic GRCh37 chr1: 223,972,939-249,224,684 , GRCh38.p12 chr1: 223,785,237-248,930,485 SEPTIN7P13, WNT3A, 546 more genes
    nsv6636754copy number variation1nstd102humanPathogenic GRCh37 chr1: 244,960,357-245,040,680 , GRCh38.p12 chr1: 244,797,055-244,877,378 LOC107985372, HNRNPU, 2 more genes
    nsv6636648copy number variation1nstd102humanPathogenic GRCh37 chr1: 239,910,960-249,224,684 , GRCh38.p12 chr1: 239,747,660-248,930,485 RFKP1, OR2T29, 206 more genes
    nsv6636282copy number variation1nstd102humanPathogenic GRCh37 chr1: 243,258,050-249,224,684 , GRCh38.p12 chr1: 243,094,748-248,930,485 AHCYP8, OR2M2, 154 more genes
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