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Items: 1 to 20 of 113

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6649264copy number variation1nstd229human GRCh38 chr1: 35,558,494-35,562,291 , GRCh37.p13 chr1: 36,024,095-36,027,892 NCDN
    nsv5431932copy number variation1nstd206human GRCh38 chr1: 35,564,186-35,564,403 , GRCh37.p13 chr1: 36,029,787-36,030,004 NCDN
    nsv5074597mobile element insertion1nstd203human GRCh38 chr1: 35,559,966-35,559,977 , GRCh37.p13 chr1: 36,025,567-36,025,578 NCDN
    esv3218901insertion1estd209human GRCh37 chr1: 36,027,064-36,027,064 , GRCh38.p12 chr1: 35,561,463-35,561,463 NCDN
    nsv1428615short tandem repeat1nstd128human GRCh37 chr1: 36,024,020-36,024,053 , GRCh38.p12 chr1: 35,558,419-35,558,452 NCDN
    nsv1428616short tandem repeat1nstd128human GRCh37 chr1: 36,027,122-36,027,149 , GRCh38.p12 chr1: 35,561,521-35,561,548 NCDN
    nsv1489948short tandem repeat1nstd128human GRCh37 chr1: 36,027,180-36,027,203 , GRCh38.p12 chr1: 35,561,579-35,561,602 NCDN
    nsv1428383short tandem repeat1nstd128human GRCh37 chr1: 36,024,618-36,024,632 , GRCh38.p12 chr1: 35,559,017-35,559,031 NCDN
    esv3420370copy number variation8estd59human NCBI36 chr1: 35,794,377-35,796,925 , GRCh37.p13 chr1: 36,021,790-36,024,338 , GRCh38.p12 chr1: 35,556,189-35,558,737 NCDN, KIAA0319L
    nsv3123397copy number variation1nstd151human GRCh37 chr1: 36,019,948-36,024,853 , GRCh38.p12 chr1: 35,554,347-35,559,252 NCDN, KIAA0319L
    nsv7041936inversion1nstd229human GRCh38 chr1: 35,557,863-35,557,992 , GRCh37.p13 chr1: 36,023,464-36,023,593 NCDN, KIAA0319L
    nsv1428614short tandem repeat2nstd128human GRCh37 chr1: 36,022,907-36,022,927 , GRCh38.p12 chr1: 35,557,306-35,557,326 NCDN, KIAA0319L
    nsv1427453short tandem repeat4nstd128human GRCh37 chr1: 36,023,660-36,023,671 , GRCh38.p12 chr1: 35,558,059-35,558,070 NCDN, KIAA0319L
    esv3782573inversion1estd192human GRCh37 chr1: 36,029,981-36,030,001 , GRCh37 chr1: 36,015,081-36,015,101 , GRCh38.p12 chr1: 35,564,380-35,564,400 , GRCh38.p12 chr1: 35,549,480-35,549,500 NCDN, KIAA0319L
    nsv870679copy number variation1nstd71human NCBI36 chr1: 35,796,375-35,819,589 , GRCh37.p13 chr1: 36,023,788-36,047,002 , GRCh38.p12 chr1: 35,558,187-35,581,401 NCDN, TFAP2E-AS1, 1 more genes
    nsv4346788copy number variation1nstd102humanPathogenic GRCh37 chr1: 32,859,415-36,454,915 , GRCh38.p12 chr1: 32,393,814-35,989,314 NCDN, LOC100419802, 75 more genes
    nsv6636592copy number variation1nstd102humanPathogenic GRCh37 chr1: 35,104,233-37,357,913 , GRCh38.p12 chr1: 34,638,632-36,892,312 NCDN, EFCAB14P1, 56 more genes
    nsv3883608copy number variation1nstd102humanPathogenic GRCh37 chr1: 34,830,287-36,945,093 , GRCh38.p12 chr1: 34,364,686-36,479,492 NCDN, LSM10, 52 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 NCDN, MARK1, 4930 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 NCDN, SNAP47, 4927 more genes
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