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Items: 1 to 20 of 290

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5976080insertion1nstd209human GRCh38 chr15: 72,688,411-72,688,411 , GRCh37.p13 chr15: 72,980,752-72,980,752 BBS4
    nsv5975413insertion1nstd209human GRCh38 chr15: 72,702,802-72,702,802 , GRCh37.p13 chr15: 72,995,143-72,995,143 BBS4
    nsv5943448copy number variation1nstd209human GRCh38 chr15: 72,732,763-72,732,839 , GRCh37.p13 chr15: 73,025,104-73,025,180 BBS4
    nsv5933606copy number variation1nstd209human GRCh38 chr15: 71,577,714-80,433,232 , GRCh37.p13 chr15: 71,870,053-80,725,573 , STRA6, 229 more genes
    nsv5931153copy number variation1nstd209human GRCh38 chr15: 72,700,665-72,704,103 , GRCh37.p13 chr15: 72,993,006-72,996,444 BBS4
    nsv5856152copy number variation1nstd209human GRCh38 chr15: 72,699,628-72,704,345 , GRCh37.p13 chr15: 72,991,969-72,996,686 BBS4
    nsv5852427copy number variation1nstd209human GRCh38 chr15: 72,702,253-72,704,145 , GRCh37.p13 chr15: 72,994,594-72,996,486 BBS4
    nsv5717424mobile element insertion2nstd211human GRCh38 chr15: 72,692,707-72,692,707 , GRCh37.p13 chr15: 72,985,048-72,985,048 BBS4
    nsv5699212mobile element insertion1nstd211human GRCh38 chr15: 72,729,186-72,729,186 , GRCh37.p13 chr15: 73,021,527-73,021,527 BBS4
    nsv5672748copy number variation1nstd102humanPathogenic GRCh37 chr15: 73,004,585-73,004,648 , GRCh38.p12 chr15: 72,712,244-72,712,307 BBS4
    nsv5652757insertion1nstd207human GRCh38 chr15: 72,725,854-72,725,854 , GRCh37.p13 chr15: 73,018,195-73,018,195 BBS4
    nsv5590553copy number variation1nstd207human GRCh38 chr15: 72,725,831-72,725,921 , GRCh37.p13 chr15: 73,018,172-73,018,262 BBS4
    nsv5556146mobile element insertion1nstd206human GRCh38 chr15: 72,692,707-72,692,726 , GRCh37.p13 chr15: 72,985,048-72,985,067 BBS4
    nsv5531517copy number variation1nstd206human GRCh38 chr15: 72,732,763-72,732,841 , GRCh37.p13 chr15: 73,025,104-73,025,182 BBS4
    nsv5520100copy number variation1nstd206human GRCh38 chr15: 72,735,139-72,735,279 , GRCh37.p13 chr15: 73,027,480-73,027,620 BBS4
    nsv5380841copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chr15: 72,978,549-73,029,948 , GRCh38.p12 chr15: 72,686,208-72,737,607 HIGD2B, BBS4
    nsv5380758copy number variation2nstd102humanUncertain significance GRCh37 chr15: 32,964,879-91,358,519 , GRCh38.p12 chr15: 32,672,678-90,815,289 LOC105370794, HNRNPA1P45, 1173 more genes
    nsv5349153translocation1nstd200human GRCh38 chr15: 72,700,667-72,700,667 , GRCh38 chr15: 72,704,104-72,704,104 , GRCh37.p13 chr15: 72,993,008-72,993,008 , GRCh37.p13 chr15: 72,996,445-72,996,445 BBS4
    nsv5152693mobile element insertion1nstd203human GRCh38 chr15: 72,687,124-72,687,134 , GRCh37.p13 chr15: 72,979,465-72,979,475 BBS4
    nsv5143998mobile element insertion1nstd203human GRCh38 chr15: 72,702,825-72,702,837 , GRCh37.p13 chr15: 72,995,166-72,995,178 BBS4
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