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Items: 1 to 20 of 201

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099215copy number variation1nstd231human GRCh38.p12 chr1: 84,991,383-97,594,649 , GRCh37 chr1: 85,457,066-98,060,205 ABCA4, BRDT, 220 more genes
    nsv7057605inversion1nstd229human GRCh38 chr1: 78,336,704-86,162,072 , GRCh37.p13 chr1: 78,802,388-86,627,755 LINC01712, LOC105378812, 74 more genes
    nsv7053103inversion1nstd229human GRCh38 chr1: 81,888,908-86,483,944 , GRCh37.p13 chr1: 82,354,593-86,949,627 C1orf52, DNAI3, 50 more genes
    nsv7049841inversion1nstd229human GRCh38 chr1: 84,848,723-86,345,988 , GRCh37.p13 chr1: 85,314,406-86,811,671 LOC105378825, MCOLN2, 19 more genes
    nsv7046575inversion1nstd229human GRCh38 chr1: 83,069,893-89,051,563 , GRCh37.p13 chr1: 83,535,576-89,517,246 LOC105378826, RN7SL583P, 87 more genes
    nsv7041571inversion1nstd229human GRCh38 chr1: 84,455,419-86,210,703 , GRCh37.p13 chr1: 84,921,102-86,676,386 GNG5, DNAI3, 25 more genes
    nsv6656155copy number variation1nstd229human GRCh38 chr1: 84,297,101-85,026,300 , GRCh37.p13 chr1: 84,762,784-85,491,983 LOC102724892, MCOLN3, 13 more genes
    nsv6655930copy number variation1nstd229human GRCh38 chr1: 84,869,727-85,731,312 , GRCh37.p13 chr1: 85,335,410-86,196,995 LOC105378821, C1orf52, 15 more genes
    nsv6655391copy number variation1nstd229human GRCh38 chr1: 85,036,251-85,043,899 , GRCh37.p13 chr1: 85,501,934-85,509,582 MCOLN3
    nsv6655386copy number variation1nstd229human GRCh38 chr1: 84,961,506-85,081,904 , GRCh37.p13 chr1: 85,427,189-85,547,587 DNAI3, MCOLN2, 1 more genes
    nsv6335565copy number variation1nstd223human GRCh38 chr1: 84,987,792-85,195,515 , GRCh37.p13 chr1: 85,453,475-85,661,198 MCOLN3, MCOLN2, 3 more genes
    nsv6322404copy number variation1nstd223human GRCh38 chr1: 85,048,801-85,054,100 , GRCh37.p13 chr1: 85,514,484-85,519,783 MCOLN3
    nsv6313574copy number variation1nstd102humanPathogenic GRCh37 chr1: 68,180,293-92,731,957 , GRCh38.p12 chr1: 67,714,610-92,266,400 RNA5SP51, ADGRL4, 315 more genes
    nsv6154629copy number variation1nstd214human GRCh38 chr1: 85,048,376-85,048,454 , GRCh37.p13 chr1: 85,514,059-85,514,137 MCOLN3
    nsv6134251copy number variation1nstd213human GRCh37 chr1: 85,440,000-85,630,001 , GRCh38.p12 chr1: 84,974,317-85,164,318 MCOLN3, SYDE2, 3 more genes
    nsv5830678copy number variation1nstd209human GRCh38 chr1: 84,987,836-85,022,965 , GRCh37.p13 chr1: 85,453,519-85,488,648 MCOLN2, MCOLN3
    nsv5830494copy number variation1nstd209human GRCh38 chr1: 85,026,516-85,029,865 , GRCh37.p13 chr1: 85,492,199-85,495,548 MCOLN3
    nsv4896724copy number variation1nstd200human GRCh38 chr1: 84,766,174-85,027,850 , GRCh37.p13 chr1: 85,231,857-85,493,533 MCOLN2, MCOLN3, 2 more genes
    nsv4888344inversion1nstd200human GRCh37 chr1: 51,769,169-94,478,994 , GRCh38.p12 chr1: 51,303,497-94,013,438 , ST13P20, 664 more genes
    nsv4784039copy number variation1nstd200human GRCh37 chr1: 85,509,589-85,593,129 , GRCh38.p12 chr1: 85,043,906-85,127,446 MCOLN3, DNAI3
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