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Items: 1 to 20 of 181

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099254copy number variation1nstd231human GRCh38.p12 chr1: 182,376,401-191,898,122 , GRCh37 chr1: 182,345,536-191,867,252 DHX9, GLUL, 99 more genes
    nsv6673266copy number variation1nstd229human GRCh38 chr1: 190,478,095-190,719,768 , GRCh37.p13 chr1: 190,447,225-190,688,898 BRINP3-DT, BRINP3, 1 more genes
    nsv6671534copy number variation1nstd229human GRCh38 chr1: 190,402,971-190,486,121 , GRCh37.p13 chr1: 190,372,101-190,455,251 BRINP3, BRINP3-DT
    nsv6670633copy number variation1nstd229human GRCh38 chr1: 190,436,009-190,480,766 , GRCh37.p13 chr1: 190,405,139-190,449,896 BRINP3-DT, BRINP3
    nsv6664098copy number variation1nstd229human GRCh38 chr1: 189,813,413-194,218,341 , GRCh37.p13 chr1: 189,782,543-194,187,471 RO60, MIR4426, 38 more genes
    nsv6659180copy number variation1nstd229human GRCh38 chr1: 189,824,588-190,487,843 , GRCh37.p13 chr1: 189,793,718-190,456,973 LOC105371659, LOC105371658, 3 more genes
    nsv6637124copy number variation1nstd102humanPathogenic GRCh37 chr1: 179,727,182-192,260,142 , GRCh38.p12 chr1: 179,758,047-192,291,012 LOC101928933, KIAA1614-AS1, 148 more genes
    nsv6636965copy number variation1nstd102humanPathogenic GRCh37 chr1: 181,453,460-213,107,248 , GRCh38.p12 chr1: 181,484,324-212,933,906 PRELP, SYT14, 527 more genes
    nsv6636659copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 189,633,885-199,854,163 , GRCh38.p12 chr1: 189,664,755-199,885,035 F13B, CFH, 88 more genes
    nsv6625704copy number variation1nstd224human GRCh37 chr1: 190,036,140-190,604,337 , GRCh38.p12 chr1: 190,067,010-190,635,207 LINC01720, BRINP3-DT, 3 more genes
    nsv6332840copy number variation1nstd223human GRCh38 chr1: 190,308,701-190,756,300 , GRCh37.p13 chr1: 190,277,831-190,725,430 BRINP3, LINC01720, 2 more genes
    nsv6325609copy number variation1nstd223human GRCh38 chr1: 190,466,301-190,486,600 , GRCh37.p13 chr1: 190,435,431-190,455,730 BRINP3, BRINP3-DT
    nsv6137149translocation1nstd213human GRCh38.p12 chr1: 202,744,375-202,744,375 , GRCh38.p12 chr1: 190,479,416-190,479,416 , GRCh37 chr1: 190,448,546-190,448,546 , GRCh37 chr1: 202,713,503-202,713,503 KDM5B, BRINP3-DT
    nsv6133950copy number variation1nstd213human GRCh37 chr1: 178,070,000-205,920,001 , GRCh38.p12 chr1: 178,100,865-205,950,873 ADORA1, CACNA1E, 442 more genes
    nsv6133933copy number variation1nstd213human GRCh37 chr1: 161,620,000-196,730,001 , GRCh38.p12 chr1: 161,650,210-196,760,871 FASLG, SERPINC1, 510 more genes
    nsv6133837copy number variation1nstd213human GRCh37 chr1: 185,830,000-191,830,001 , GRCh38.p12 chr1: 185,860,868-191,860,871 ODR4, BRINP3, 35 more genes
    nsv6133610copy number variation1nstd213human GRCh37 chr1: 190,300,000-190,490,001 , GRCh38.p12 chr1: 190,330,870-190,520,871 BRINP3, BRINP3-DT, 1 more genes
    nsv6133580copy number variation1nstd213human GRCh37 chr1: 190,450,000-190,580,001 , GRCh38.p12 chr1: 190,480,870-190,610,871 BRINP3-DT
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv5077140mobile element insertion1nstd203human GRCh38 chr1: 190,481,078-190,481,078 , GRCh37.p13 chr1: 190,450,208-190,450,208 BRINP3-DT
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