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Items: 1 to 20 of 147

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099204copy number variation1nstd231human GRCh38.p12 chr1: 51,433,462-53,162,521 , GRCh37 chr1: 51,899,134-53,628,193 EPS15, GPX7, 53 more genes
    nsv7052650inversion1nstd229human GRCh38 chr1: 47,584,744-54,395,558 , GRCh37.p13 chr1: 48,050,416-54,861,231 ANAPC10P1, SPATA6, 137 more genes
    nsv7044363inversion1nstd229human GRCh38 chr1: 52,322,448-52,410,648 , GRCh37.p13 chr1: 52,788,120-52,876,320 ZFYVE9, PLA2G12AP1, 3 more genes
    nsv6650892copy number variation1nstd229human GRCh38 chr1: 52,396,529-52,421,040 , GRCh37.p13 chr1: 52,862,201-52,886,712 ORC1, PRPF38A
    nsv6638064copy number variation1nstd102humanassociation GRCh38 chr1: 48,666,286-52,808,894 , GRCh37.p13 chr1: 49,131,958-53,274,566 LOC105378710, RNU6-1026P, 80 more genes
    nsv6323509copy number variation1nstd223human GRCh38 chr1: 52,419,101-52,419,800 , GRCh37.p13 chr1: 52,884,773-52,885,472 PRPF38A
    nsv6316993copy number variation1nstd223human GRCh38 chr1: 52,416,801-52,418,900 , GRCh37.p13 chr1: 52,882,473-52,884,572 PRPF38A
    nsv6133775copy number variation1nstd213human GRCh37 chr1: 50,680,000-53,460,001 , GRCh38.p12 chr1: 50,214,328-52,994,329 CDKN2C, EPS15, 76 more genes
    nsv5867641copy number variation1nstd209human GRCh38 chr1: 52,407,327-52,407,443 , GRCh37.p13 chr1: 52,872,999-52,873,115 PRPF38A
    nsv5427910copy number variation1nstd206human GRCh38 chr1: 52,407,328-52,407,444 , GRCh37.p13 chr1: 52,873,000-52,873,116 PRPF38A
    nsv5411011mobile element insertion1nstd206human GRCh38 chr1: 52,402,524-52,402,575 , GRCh37.p13 chr1: 52,868,196-52,868,247 ORC1, PRPF38A
    nsv5381135copy number variation1nstd102humanPathogenic GRCh37 chr1: 51,941,877-56,688,514 , GRCh38.p12 chr1: 51,476,205-56,222,842 LRP8-DT, LRRC42, 122 more genes
    nsv5351932translocation1nstd200human GRCh38 chr1: 52,406,690-52,406,690 , GRCh38 chr1: 52,406,627-52,406,627 , GRCh37.p13 chr1: 52,872,299-52,872,299 , GRCh37.p13 chr1: 52,872,362-52,872,362 PRPF38A
    nsv5283985copy number variation1nstd204human GRCh38.p13 chr1: 52,398,069-52,416,461 , GRCh37.p13 chr1: 52,863,741-52,882,133 PRPF38A, ORC1
    nsv5218116copy number variation1nstd204human GRCh38.p13 chr1: 52,398,168-52,416,057 , GRCh37.p13 chr1: 52,863,840-52,881,729 ORC1, PRPF38A
    nsv5078604mobile element insertion1nstd203human GRCh38 chr1: 52,403,671-52,403,685 , GRCh37.p13 chr1: 52,869,343-52,869,357 PRPF38A, ORC1
    nsv4903495copy number variation1nstd200human GRCh38 chr1: 52,398,633-52,406,215 , GRCh37.p13 chr1: 52,864,305-52,871,887 ORC1, PRPF38A
    nsv4890171copy number variation1nstd200human GRCh38 chr1: 52,416,857-52,418,625 , GRCh37.p13 chr1: 52,882,529-52,884,297 PRPF38A
    nsv4888344inversion1nstd200human GRCh37 chr1: 51,769,169-94,478,994 , GRCh38.p12 chr1: 51,303,497-94,013,438 , ST13P20, 664 more genes
    nsv4783233copy number variation1nstd200human GRCh37 chr1: 52,873,000-52,873,116 , GRCh38.p12 chr1: 52,407,328-52,407,444 PRPF38A
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