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Items: 1 to 20 of 234

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6112700copy number variation1nstd102humanPathogenic GRCh38 chr16: 46,385,317-61,223,349 , GRCh37.p13 chr16: 46,419,229-61,257,253 CPNE2, USB1, 275 more genes
    nsv5973722insertion1nstd209human GRCh38 chr16: 56,908,180-56,908,180 , GRCh37.p13 chr16: 56,942,092-56,942,092 SLC12A3
    nsv5943602copy number variation1nstd209human GRCh38 chr16: 56,883,819-56,883,893 , GRCh37.p13 chr16: 56,917,731-56,917,805 SLC12A3
    nsv5940210copy number variation1nstd209human GRCh38 chr16: 56,871,957-56,872,795 , GRCh37.p13 chr16: 56,905,869-56,906,707 SLC12A3
    nsv5703038mobile element insertion1nstd211human GRCh38 chr16: 56,887,818-56,887,818 , GRCh37.p13 chr16: 56,921,730-56,921,730 SLC12A3
    nsv5673001copy number variation1nstd102humanPathogenic GRCh37 chr16: 56,921,827-56,921,953 , GRCh38.p12 chr16: 56,887,915-56,888,041 SLC12A3
    nsv5673000copy number variation1nstd102humanPathogenic GRCh37 chr16: 56,906,253-56,912,083 , GRCh38.p12 chr16: 56,872,341-56,878,171 SLC12A3
    nsv5672928copy number variation1nstd102humanPathogenic GRCh37 chr16: 56,925,985-56,936,430 , GRCh38.p12 chr16: 56,892,073-56,902,518 SLC12A3, MIR6863
    nsv5365649translocation1nstd200human GRCh38 chr16: 56,907,070-56,907,070 , GRCh38 chr16: 56,908,422-56,908,422 , GRCh37.p13 chr16: 56,940,982-56,940,982 , GRCh37.p13 chr16: 56,942,334-56,942,334 SLC12A3, RPS24P17
    nsv5332792translocation1nstd200human GRCh37 chr16: 56,942,334-56,942,334 , GRCh37 chr16: 56,940,982-56,940,982 , GRCh38.p12 chr16: 56,907,070-56,907,070 , GRCh38.p12 chr16: 56,908,422-56,908,422 SLC12A3, RPS24P17
    nsv5301175copy number variation1nstd204human GRCh38.p13 chr16: 56,771,413-57,511,371 , GRCh37.p13 chr16: 56,805,325-57,545,283 , PLLP, 24 more genes
    nsv5272318copy number variation1nstd204human GRCh38.p13 chr16: 56,837,666-56,863,217 , GRCh37.p13 chr16: 56,871,578-56,897,129 SLC12A3, NUP93, 1 more genes
    nsv5263209copy number variation1nstd204human GRCh38.p13 chr16: 56,771,401-57,423,100 , GRCh37.p13 chr16: 56,805,313-57,457,012 , NUP93, 19 more genes
    nsv5186770mobile element insertion1nstd203human GRCh38 chr16: 56,909,777-56,909,794 , GRCh37.p13 chr16: 56,943,689-56,943,706 SLC12A3
    nsv5150618mobile element insertion1nstd203human GRCh38 chr16: 56,908,161-56,908,180 , GRCh37.p13 chr16: 56,942,073-56,942,092 SLC12A3
    nsv5149020mobile element insertion1nstd203human GRCh38 chr16: 56,908,109-56,908,122 , GRCh37.p13 chr16: 56,942,021-56,942,034 SLC12A3
    nsv5148880mobile element insertion1nstd203human GRCh38 chr16: 56,873,724-56,873,753 , GRCh37.p13 chr16: 56,907,636-56,907,665 SLC12A3
    nsv5145036mobile element insertion1nstd203human GRCh38 chr16: 56,907,434-56,907,445 , GRCh37.p13 chr16: 56,941,346-56,941,357 RPS24P17, SLC12A3
    nsv5143095mobile element insertion1nstd203human GRCh38 chr16: 56,885,711-56,885,725 , GRCh37.p13 chr16: 56,919,623-56,919,637 SLC12A3
    nsv5008370copy number variation1nstd200human GRCh38 chr16: 56,907,180-56,909,377 , GRCh37.p13 chr16: 56,941,092-56,943,289 RPS24P17, SLC12A3
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