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Items: 1 to 20 of 711

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112690copy number variation1nstd102humanPathogenic GRCh37 chrX: 60,000-155,234,966 , GRCh38.p12 chrX: 10,001-156,005,301 LOC105373176, ZFX-AS1, 2151 more genes
    nsv5978678copy number variation1nstd209human GRCh38 chrX: 1,596,873-1,610,569 , GRCh37.p13 chrX: 1,715,766-1,729,462 AKAP17A, ASMT
    nsv5972473copy number variation1nstd209human GRCh38 chrX: 1,585,020-1,595,165 , GRCh37.p13 chrX: 1,703,913-1,714,058 AKAP17A, ASMT
    nsv5880387copy number variation1nstd209human GRCh38 chrX: 1,596,680-1,596,886 , GRCh37.p13 chrX: 1,715,573-1,715,779 ASMT, AKAP17A
    nsv5671782inversion1nstd207human GRCh38 chrY: 10,002-57,217,414 , GRCh37.p13 chrY: 10,002-59,363,565 , ACTG1P2, 580 more genes
    nsv5669922copy number variation1nstd207human GRCh38 chrY: 1,596,601-1,596,854 , GRCh37.p13 chrY: 1,665,494-1,665,747 ASMT, AKAP17A
    nsv5669577copy number variation1nstd207human GRCh38 chrY: 1,596,742-1,596,854 , GRCh37.p13 chrY: 1,665,635-1,665,747 ASMT, AKAP17A
    nsv5668194copy number variation1nstd207human GRCh38 chrX: 1,596,601-1,596,854 , GRCh37.p13 chrX: 1,715,494-1,715,747 ASMT, AKAP17A
    nsv5666112copy number variation1nstd207human GRCh38 chrX: 1,596,769-1,596,829 , GRCh37.p13 chrX: 1,715,662-1,715,722 ASMT, AKAP17A
    nsv5612679insertion1nstd207human GRCh38 chrY: 1,596,769-1,596,769 , GRCh37.p13 chrY: 1,665,662-1,665,662 ASMT, AKAP17A
    nsv5612349insertion1nstd207human GRCh38 chrX: 1,596,695-1,596,695 , GRCh37.p13 chrX: 1,715,588-1,715,588 ASMT, AKAP17A
    nsv5564472copy number variation1nstd102humanPathogenic GRCh37 chrY: 10,701-5,080,415 , GRCh38.p12 chrY: 10,701-5,212,374 AGPAT5P1, NAP1L1P2, 58 more genes
    nsv5556906sequence alteration1nstd206human GRCh38 chrX: 1,348,093-1,930,225 , GRCh37.p13 chrX: 1,466,986-2,049,118 , ASMTL-AS1, 14 more genes
    nsv5432327copy number variation1nstd206human GRCh38 chrX: 10,000-2,781,000 , GRCh37.p13 chrX: 60,001-2,699,041 , IL3RA, 40 more genes
    nsv5428879copy number variation1nstd206human GRCh38 chrX: 1,601,787-1,601,855 , GRCh37.p13 chrX: 1,720,680-1,720,748 AKAP17A, ASMT
    nsv5375808translocation1nstd200human GRCh38 chrX: 1,602,863-1,602,863 , GRCh38 chrX: 1,606,362-1,606,362 , GRCh37.p13 chrX: 1,721,756-1,721,756 , GRCh37.p13 chrX: 1,725,255-1,725,255 AKAP17A, ASMT
    nsv5059968copy number variation1nstd102humanPathogenic GRCh37 chrX: 168,546-56,457,794 , GRCh38.p12 chrX: 251,879-56,431,361 PAGE3, METTL15P3, 785 more genes
    nsv4905082copy number variation1nstd200human GRCh38 chrX: 1,599,109-2,421,074 , GRCh37.p13 chrX: 1,718,002-2,339,115 , LINC02968, 7 more genes
    nsv4905081copy number variation1nstd200human GRCh38 chrX: 1,572,546-1,590,636 , GRCh37.p13 chrX: 1,691,439-1,709,529 AKAP17A
    nsv4905078copy number variation1nstd200human GRCh38 chrX: 1,423,799-1,685,751 , GRCh37.p13 chrX: 1,542,692-1,804,644 , ASMT, 3 more genes
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