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Items: 1 to 20 of 382

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099216copy number variation1nstd231human GRCh38.p12 chr1: 94,020,799-94,715,227 , GRCh37 chr1: 94,486,355-95,180,783 ABCA4, F3, 12 more genes
    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
    nsv7096066copy number variation1nstd102humanPathogenic GRCh37 chr1: 94,574,113-94,578,642 , GRCh38.p12 chr1: 94,108,557-94,113,086 ABCA4
    nsv7096065copy number variation1nstd102humanPathogenic GRCh37 chr1: 94,476,336-94,476,961 , GRCh38.p12 chr1: 94,010,780-94,011,405 ABCA4
    nsv7096010copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 94,548,977-94,551,693 , GRCh38.p12 chr1: 94,083,421-94,086,137 ABCA4
    nsv7096009copy number variation1nstd102humanPathogenic GRCh37 chr1: 94,474,287-94,474,447 , GRCh38.p12 chr1: 94,008,731-94,008,891 ABCA4
    nsv7095874copy number variation1nstd102humanPathogenic GRCh37 chr1: 94,564,330-94,574,292 , GRCh38.p12 chr1: 94,098,774-94,108,736 ABCA4
    nsv7095873copy number variation1nstd102humanPathogenic GRCh37 chr1: 94,512,455-94,586,601 , GRCh38.p12 chr1: 94,046,899-94,121,045 ABCA4
    nsv7095542copy number variation1nstd102humanPathogenic GRCh37 chr1: 94,462,147-94,586,601 , GRCh38.p12 chr1: 93,996,591-94,121,045 ABCA4
    nsv7095541copy number variation1nstd102humanPathogenic GRCh37 chr1: 94,458,793-94,467,568 , GRCh38.p12 chr1: 93,993,237-94,002,012 ABCA4
    nsv7054656inversion1nstd229human GRCh38 chr1: 94,105,895-94,105,988 , GRCh37.p13 chr1: 94,571,451-94,571,544 ABCA4
    nsv7046892inversion1nstd229human GRCh38 chr1: 94,030,441-94,030,557 , GRCh37.p13 chr1: 94,495,997-94,496,113 ABCA4
    nsv7044428inversion1nstd229human GRCh38 chr1: 93,904,930-94,557,074 , GRCh37.p13 chr1: 94,370,486-95,022,630 MTATP6P13, MIR12133, 16 more genes
    nsv7043390inversion1nstd229human GRCh38 chr1: 94,083,836-94,091,002 , GRCh37.p13 chr1: 94,549,392-94,556,558 ABCA4
    nsv7038631inversion1nstd229human GRCh38 chr1: 94,084,069-94,086,854 , GRCh37.p13 chr1: 94,549,625-94,552,410 ABCA4
    nsv6657557copy number variation1nstd229human GRCh38 chr1: 94,072,296-94,077,991 , GRCh37.p13 chr1: 94,537,852-94,543,547 ABCA4
    nsv6657467copy number variation1nstd229human GRCh38 chr1: 94,113,673-94,118,583 , GRCh37.p13 chr1: 94,579,229-94,584,139 ABCA4
    nsv6657466copy number variation1nstd229human GRCh38 chr1: 94,039,768-94,133,007 , GRCh37.p13 chr1: 94,505,324-94,598,563 ABCA4
    nsv6657463copy number variation1nstd229human GRCh38 chr1: 93,937,901-94,040,800 , GRCh37.p13 chr1: 94,403,457-94,506,356 ABCA4
    nsv6657458copy number variation1nstd229human GRCh38 chr1: 93,845,890-94,640,318 , GRCh37.p13 chr1: 94,311,446-95,105,874 MIR12133, CHCHD2P5, 22 more genes
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