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Items: 1 to 20 of 773

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5963333insertion1nstd209human GRCh38 chr2: 178,744,517-178,744,517 , GRCh37.p13 chr2: 179,609,244-179,609,244 TTN
    nsv5907453copy number variation1nstd209human GRCh38 chr2: 178,757,146-178,757,205 , GRCh37.p13 chr2: 179,621,873-179,621,932 TTN
    nsv5729445mobile element insertion1nstd211human GRCh38 chr2: 178,625,061-178,625,061 , GRCh37.p13 chr2: 179,489,788-179,489,788 TTN
    nsv5684178mobile element insertion2nstd211human GRCh38 chr2: 178,744,527-178,744,527 , GRCh37.p13 chr2: 179,609,254-179,609,254 TTN
    nsv5683551mobile element insertion1nstd211human GRCh38 chr2: 178,767,655-178,767,655 , GRCh37.p13 chr2: 179,632,382-179,632,382 TTN
    nsv5679376mobile element insertion2nstd211human GRCh38 chr2: 178,687,407-178,687,407 , GRCh37.p13 chr2: 179,552,134-179,552,134 TTN
    nsv5674264insertion1nstd102humanLikely pathogenic GRCh38 chr2: 178,609,246-178,609,246 , GRCh37 chr2: 179,473,973-179,473,973 TTN, TTN-AS1
    nsv5674251insertion1nstd102humanLikely pathogenic GRCh38 chr2: 178,579,606-178,579,606 , GRCh37 chr2: 179,444,333-179,444,333 TTN, TTN-AS1
    nsv5674245insertion1nstd102humanLikely pathogenic GRCh38 chr2: 178,592,434-178,592,434 , GRCh37 chr2: 179,457,161-179,457,161 TTN, TTN-AS1
    nsv5673202copy number variation2nstd102humanLikely pathogenic GRCh37 chr2: 179,424,791-179,429,241 , GRCh38 chr2: 178,560,064-178,564,514 TTN, TTN-AS1
    nsv5622028insertion1nstd207human GRCh38 chr2: 178,687,394-178,687,394 , GRCh37.p13 chr2: 179,552,121-179,552,121 TTN
    nsv5619066insertion1nstd207human GRCh38 chr2: 178,757,146-178,757,146 , GRCh37.p13 chr2: 179,621,873-179,621,873 TTN
    nsv5618872insertion1nstd207human GRCh38 chr2: 178,757,157-178,757,157 , GRCh37.p13 chr2: 179,621,884-179,621,884 TTN
    nsv5609785insertion1nstd207human GRCh38 chr2: 178,757,148-178,757,148 , GRCh37.p13 chr2: 179,621,875-179,621,875 TTN
    nsv5565212copy number variation1nstd207human GRCh38 chr2: 178,655,046-178,657,435 , GRCh37.p13 chr2: 179,519,773-179,522,162 TTN
    nsv5564253copy number variation1nstd102humanUncertain significance GRCh37 chr2: 179,552,838-179,669,369 , GRCh38.p12 chr2: 178,688,111-178,804,642 LOC101927055, TTN
    nsv5564184copy number variation1nstd102humanUncertain significance GRCh37 chr2: 179,485,819-179,486,745 , GRCh38.p12 chr2: 178,621,092-178,622,018 TTN
    nsv5564115mobile element insertion1nstd206human GRCh38 chr2: 178,625,061-178,625,112 , GRCh37.p13 chr2: 179,489,788-179,489,839 TTN
    nsv5563740sequence alteration1nstd206human GRCh38 chr2: 178,542,036-178,542,037 , GRCh37.p13 chr2: 179,406,763-179,406,764 TTN, TTN-AS1
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
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