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Items: 1 to 20 of 139

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5883883copy number variation1nstd209human GRCh38 chr1: 23,325,086-23,326,413 , GRCh37.p13 chr1: 23,651,579-23,652,906 HNRNPR
    nsv5882200copy number variation1nstd209human GRCh38 chr1: 23,334,339-23,335,069 , GRCh37.p13 chr1: 23,660,832-23,661,562 HNRNPR
    nsv5829488copy number variation1nstd209human GRCh38 chr1: 23,315,648-23,317,647 , GRCh37.p13 chr1: 23,642,141-23,644,140 HNRNPR
    nsv5829248copy number variation1nstd209human GRCh38 chr1: 23,325,092-23,326,422 , GRCh37.p13 chr1: 23,651,585-23,652,915 HNRNPR
    nsv5429511copy number variation1nstd206human GRCh38 chr1: 23,337,253-23,337,436 , GRCh37.p13 chr1: 23,663,746-23,663,929 HNRNPR
    nsv5427686copy number variation1nstd206human GRCh38 chr1: 22,064,395-28,290,354 , GRCh37.p13 chr1: 22,390,888-28,616,865 , NCMAP-DT, 201 more genes
    nsv5425004copy number variation1nstd206human GRCh38 chr1: 23,334,359-23,335,116 , GRCh37.p13 chr1: 23,660,852-23,661,609 HNRNPR
    nsv5417857copy number variation1nstd206human GRCh38 chr1: 23,324,300-23,324,872 , GRCh37.p13 chr1: 23,650,793-23,651,365 HNRNPR
    nsv5078734mobile element insertion1nstd203human GRCh38 chr1: 23,336,112-23,336,116 , GRCh37.p13 chr1: 23,662,605-23,662,609 HNRNPR
    nsv5070926mobile element insertion1nstd203human GRCh38 chr1: 23,327,041-23,327,054 , GRCh37.p13 chr1: 23,653,534-23,653,547 HNRNPR
    nsv4895326copy number variation1nstd200human GRCh38 chr1: 23,343,086-23,346,440 , GRCh37.p13 chr1: 23,669,579-23,672,933 HNRNPR
    nsv4772736copy number variation1nstd200human GRCh37 chr1: 23,660,957-23,661,623 , GRCh38.p12 chr1: 23,334,464-23,335,130 , GRCh38.p12 chr1|NW_014040926.1: 104,443-105,109 HNRNPR
    nsv4772735copy number variation1nstd200human GRCh37 chr1: 23,650,827-23,651,412 , GRCh38.p12 chr1|NW_014040926.1: 94,313-94,898 , GRCh38.p12 chr1: 23,324,334-23,324,919 HNRNPR
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4517914copy number variation1nstd166human GRCh37.p13 chr1: 23,660,875-23,661,595 , GRCh38.p12 chr1|NW_014040926.1: 104,361-105,081 , GRCh38.p12 chr1: 23,334,382-23,335,102 HNRNPR
    nsv4460736mobile element insertion1nstd166human GRCh37.p13 chr1: 23,643,076-23,643,076 , GRCh38.p12 chr1: 23,316,583-23,316,583 , GRCh38.p12 chr1|NW_014040926.1: 86,562-86,562 HNRNPR
    nsv4436680complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 973,858-24,379,779 , GRCh37 chr1: 909,238-24,706,269 ALPL, RERE, 636 more genes
    nsv4436486complex substitution1nstd102humanUncertain significance GRCh38.p12 chr1: 17,229,013-24,379,779 , GRCh37 chr1: 17,555,508-24,706,269 ALPL, C1QA, 174 more genes
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