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Items: 1 to 20 of 167

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7139623insertion1nstd232human GRCh37.p13 chr16: 2,810,500-2,810,500 , GRCh38.p12 chr16: 2,760,499-2,760,499 SRRM2
    nsv7137040copy number variation1nstd102humanUncertain significance GRCh38 chr16: 2,767,304-2,767,387 , GRCh37 chr16: 2,817,305-2,817,388 SRRM2
    nsv7094666copy number variation3nstd102humanUncertain significance GRCh37 chr16: 256,302-4,852,572 , GRCh38.p12 chr16: 206,303-4,802,571 DNAAF8, TMEM204, 282 more genes
    nsv7067129inversion1nstd229human GRCh38 chr16: 2,727,558-2,749,102 , GRCh37.p13 chr16: 2,777,559-2,799,103 SRRM2, SRRM2-AS1
    nsv6637409copy number variation1nstd102humanUncertain significance GRCh37 chr16: 2,794,763-2,993,610 , GRCh38.p12 chr16: 2,744,762-2,943,609 RPL23AP86, FLYWCH1, 14 more genes
    nsv6634427copy number variation1nstd102humanPathogenic GRCh37 chr16: 111,043-6,627,459 , GRCh38.p12 chr16: 61,045-6,577,458 HBA1, ANTKMT, 312 more genes
    nsv6497967copy number variation1nstd223human GRCh38 chr16: 2,769,645-2,770,131 , GRCh37.p13 chr16: 2,819,646-2,820,132 SRRM2, ELOB
    nsv6290309copy number variation1nstd102humanUncertain significance GRCh37 chr16: 2,635,096-2,830,625 , GRCh38.p12 chr16: 2,585,095-2,780,624 PDPK2P, LOC652276, 8 more genes
    nsv6290137copy number variation1nstd102humanPathogenic GRCh38 chr16: 2,765,039-2,765,105 , GRCh37 chr16: 2,815,040-2,815,106 SRRM2
    nsv6290044copy number variation1nstd218human GRCh38.p12 chr16: 2,757,479-3,781,321 , GRCh37 chr16: 2,807,480-3,831,322 , CREBBP, 87 more genes
    nsv6133278copy number variation2nstd213human GRCh37 chr16: 60,000-14,990,001 , GRCh38.p12 chr16: 10,001-14,896,144 , ABAT, 446 more genes
    nsv6133274copy number variation1nstd213human GRCh37 chr16: 2,660,000-3,710,001 , GRCh38.p12 chr16: 2,609,999-3,660,000 DNASE1, MEFV, 90 more genes
    nsv6133194copy number variation1nstd213human GRCh37 chr16: 2,800,000-2,970,001 , GRCh38.p12 chr16: 2,749,999-2,920,000 ELOB, PRSS21, 12 more genes
    nsv6112797copy number variation1nstd102humanPathogenic GRCh37 chr16: 84,485-5,251,013 , GRCh38.p12 chr16: 34,485-5,201,012 ANTKMT, HBA1, 307 more genes
    nsv5699325mobile element insertion2nstd211human GRCh38 chr16: 2,761,079-2,761,079 , GRCh37.p13 chr16: 2,811,080-2,811,080 SRRM2
    nsv5655430insertion1nstd207human GRCh38 chr16: 2,754,722-2,754,722 , GRCh37.p13 chr16: 2,804,723-2,804,723 SRRM2
    nsv5523556copy number variation1nstd206human GRCh38 chr16: 2,754,446-2,754,537 , GRCh37.p13 chr16: 2,804,447-2,804,538 SRRM2
    nsv5523055copy number variation1nstd206human GRCh38 chr16: 2,755,754-2,755,836 , GRCh37.p13 chr16: 2,805,755-2,805,837 SRRM2
    nsv5421770mobile element insertion1nstd206human GRCh38 chr16: 2,761,079-2,761,130 , GRCh37.p13 chr16: 2,811,080-2,811,131 SRRM2
    nsv5272285copy number variation1nstd204human GRCh38.p13 chr16: 2,651,201-3,235,500 , GRCh37.p13 chr16: 2,701,202-3,285,500 , RNU1-125P, 64 more genes
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