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Items: 1 to 20 of 657

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7139954copy number variation1nstd232human GRCh37.p13 chr1: 900,047-900,123 , GRCh38.p12 chr1: 964,667-964,743 PLEKHN1, KLHL17
    nsv7137045copy number variation1nstd102humanPathogenic GRCh37 chr1: 536,777-6,012,896 , GRCh38.p12 chr1: 601,397-5,952,836 MIR200B, LOC105378608, 172 more genes
    nsv7099018copy number variation1nstd102humanPathogenic GRCh37 chr1: 1-2,580,976 , GRCh38.p12 chr1: 10,001-2,649,537 DVL1, LOC100129534, 148 more genes
    nsv7096064copy number variation1nstd102humanUncertain significance GRCh37 chr1: 861,322-948,976 , GRCh38.p12 chr1: 925,942-1,013,596 HES4, PERM1, 6 more genes
    nsv7054612inversion1nstd229human GRCh38 chr1: 972,727-1,033,183 , GRCh37.p13 chr1: 908,107-968,563 PLEKHN1, PERM1, 4 more genes
    nsv7044135inversion1nstd229human GRCh38 chr1: 946,586-979,131 , GRCh37.p13 chr1: 881,966-914,511 PLEKHN1, PERM1, 2 more genes
    nsv6657812copy number variation1nstd229human GRCh38 chr1: 968,388-974,514 , GRCh37.p13 chr1: 903,768-909,894 PLEKHN1, PERM1
    nsv6657811copy number variation1nstd229human GRCh38 chr1: 968,168-988,683 , GRCh37.p13 chr1: 903,548-924,063 PERM1, PLEKHN1
    nsv6657739copy number variation1nstd229human GRCh38 chr1: 971,056-973,629 , GRCh37.p13 chr1: 906,436-909,009 PLEKHN1, PERM1
    nsv6657732copy number variation1nstd229human GRCh38 chr1: 968,320-970,248 , GRCh37.p13 chr1: 903,700-905,628 PLEKHN1
    nsv6657612copy number variation1nstd229human GRCh38 chr1: 955,047-1,006,777 , GRCh37.p13 chr1: 890,427-942,157 NOC2L, HES4, 4 more genes
    nsv6657581copy number variation1nstd229human GRCh38 chr1: 946,601-972,700 , GRCh37.p13 chr1: 881,981-908,080 PLEKHN1, NOC2L, 1 more genes
    nsv6657199copy number variation1nstd229human GRCh38 chr1: 926,615-1,239,899 , GRCh37.p13 chr1: 861,995-1,175,279 TTLL10-AS1, MIR200B, 21 more genes
    nsv6656976copy number variation1nstd229human GRCh38 chr1: 965,775-968,796 , GRCh37.p13 chr1: 901,155-904,176 KLHL17, PLEKHN1
    nsv6656705copy number variation1nstd229human GRCh38 chr1: 872,040-1,151,798 , GRCh37.p13 chr1: 807,420-1,087,178 C1orf159, LOC105378948, 17 more genes
    nsv6656432copy number variation1nstd229human GRCh38 chr1: 860,901-1,011,800 , GRCh37.p13 chr1: 796,281-947,180 NOC2L, LOC284600, 12 more genes
    nsv6656142copy number variation1nstd229human GRCh38 chr1: 838,653-1,166,615 , GRCh37.p13 chr1: 774,033-1,101,995 LINC01128, SAMD11, 21 more genes
    nsv6655873copy number variation1nstd229human GRCh38 chr1: 829,470-1,107,141 , GRCh37.p13 chr1: 764,850-1,042,521 LOC107985728, PERM1, 18 more genes
    nsv6655052copy number variation1nstd229human GRCh38 chr1: 818,999-1,165,510 , GRCh37.p13 chr1: 754,379-1,100,890 HES4, LOC105378948, 22 more genes
    nsv6637093copy number variation1nstd102humanPathogenic GRCh37 chr1: 849,467-12,448,956 , GRCh38.p12 chr1: 914,087-12,388,897 VWA1, CEP104, 311 more genes
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