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Items: 1 to 20 of 203

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5896360copy number variation1nstd209human GRCh38 chr6: 79,495,335-79,605,874 , GRCh37.p13 chr6: 80,205,052-80,315,591 LCA5
    nsv5846099copy number variation2nstd209human GRCh38 chr6: 79,515,447-79,516,746 , GRCh37.p13 chr6: 80,225,164-80,226,463 LCA5
    nsv5845980copy number variation1nstd209human GRCh38 chr6: 79,495,719-79,539,751 , GRCh37.p13 chr6: 80,205,436-80,249,468 LCA5
    nsv5554232sequence alteration1nstd206human GRCh38 chr6: 79,402,907-80,289,022 , GRCh37.p13 chr6: 80,112,624-80,998,739 DBIP1, ELOVL4, 14 more genes
    nsv5465938copy number variation1nstd206human GRCh38 chr6: 79,506,616-79,506,818 , GRCh37.p13 chr6: 80,216,333-80,216,535 LCA5
    nsv5101729mobile element insertion1nstd203human GRCh38 chr6: 79,523,063-79,523,072 , GRCh37.p13 chr6: 80,232,780-80,232,789 LCA5
    nsv4945341copy number variation1nstd200human GRCh38 chr6: 79,525,615-79,780,303 , GRCh37.p13 chr6: 80,235,332-80,490,020 LCA5, SH3BGRL2
    nsv4941725copy number variation1nstd200human GRCh38 chr6: 79,486,781-79,486,868 , GRCh37.p13 chr6: 80,196,498-80,196,585 LCA5, LOC100506851
    nsv4824500copy number variation1nstd200human GRCh37 chr6: 80,235,332-80,490,020 , GRCh38.p12 chr6: 79,525,615-79,780,303 SH3BGRL2, LCA5
    nsv4729340copy number variation1nstd102humanPathogenic GRCh37 chr6: 74,226,559-80,208,037 , GRCh38.p12 chr6: 73,516,836-79,498,320 LOC107986613, LOC101928516, 58 more genes
    nsv4684145copy number variation1nstd102humanPathogenic GRCh37 chr6: 80,246,622-80,248,219 , GRCh38 chr6: 79,536,905-79,538,502 LCA5
    nsv4682770copy number variation1nstd102humanUncertain significance GRCh37 chr6: 80,203,330-80,228,611 , GRCh38.p12 chr6: 79,493,613-79,518,894 LCA5
    nsv4682395copy number variation1nstd102humanUncertain significance GRCh37 chr6: 80,196,721-80,341,223 , GRCh38.p12 chr6: 79,487,004-79,631,506 LOC100506851, LCA5, 1 more genes
    nsv4682031copy number variation1nstd102humanPathogenic GRCh37 chr6: 80,222,919-80,228,621 , GRCh38.p12 chr6: 79,513,202-79,518,904 LCA5
    nsv4675505copy number variation1nstd102humanLikely benign GRCh37 chr6: 79,999,914-80,315,818 , GRCh38.p12 chr6: 79,290,197-79,606,101 LCA5, LOC100506851, 5 more genes
    nsv4674953copy number variation1nstd102humanLikely benign GRCh37 chr6: 80,113,392-80,351,699 , GRCh38.p12 chr6: 79,403,675-79,641,982 LCA5, LOC100506851, 4 more genes
    nsv4612881copy number variation1nstd183human GRCh37 chr6: 80,179,965-80,198,662 , GRCh38.p12 chr6: 79,470,248-79,488,945 LCA5, LOC100506851
    nsv4599054copy number variation1nstd183human GRCh37 chr6: 80,195,149-80,197,806 , GRCh38.p12 chr6: 79,485,432-79,488,089 LCA5, LOC100506851
    nsv4481815mobile element insertion1nstd166human GRCh37.p13 chr6: 80,229,783-80,229,783 , GRCh38.p12 chr6: 79,520,066-79,520,066 LCA5
    nsv4456828copy number variation1nstd102humanUncertain significance GRCh37 chr6: 80,113,392-80,353,070 , GRCh38.p12 chr6: 79,403,675-79,643,353 LOC100506851, LCA5, 4 more genes
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