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Items: 1 to 20 of 146

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096666copy number variation1nstd102humanUncertain significance GRCh37 chr2: 48,065,978-48,132,859 , GRCh38.p12 chr2: 47,838,839-47,905,720 FBXO11, RPS27AP7, 1 more genes
    nsv7096665copy number variation1nstd102humanUncertain significance GRCh37 chr2: 48,036,277-48,132,859 , GRCh38.p12 chr2: 47,809,138-47,905,720 LOC100506235, FBXO11, 1 more genes
    nsv6634330copy number variation1nstd102humanPathogenic GRCh37 chr2: 11,504,318-111,365,996 , GRCh38.p12 chr2: 11,364,192-110,608,419 CYP1B1-AS1, LOC107985771, 1649 more genes
    nsv6627940copy number variation1nstd224human GRCh37 chr2: 47,067,214-48,287,260 , GRCh38.p12 chr2: 46,840,075-48,060,121 TTC7A, MCFD2, 26 more genes
    nsv6351659copy number variation1nstd223human GRCh38 chr2: 47,880,987-48,143,437 , GRCh37.p13 chr2: 48,108,126-48,370,576 FBXO11, VN1R18P, 6 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6314726copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 40,607,042-146,902,764 , GRCh38.p12 chr2: 40,379,902-146,145,196 ACTG2, ACYP2, 1713 more genes
    nsv6311928copy number variation1nstd102humanUncertain significance GRCh37 chr2: 48,035,257-48,132,859 , GRCh38.p12 chr2: 47,808,118-47,905,720 FBXO11, RPS27AP7, 1 more genes
    nsv6311925copy number variation2nstd102humanUncertain significance GRCh37 chr2: 48,018,046-50,170,949 , GRCh38.p12 chr2: 47,790,907-49,943,811 ELOBP3, RNU6-439P, 29 more genes
    nsv6137677copy number variation1nstd102humannot provided GRCh38 chr2: 47,804,639-48,361,567 , GRCh37.p13 chr2: 48,031,778-48,588,706 RNU4-49P, RN7SKP224, 11 more genes
    nsv6134545copy number variation2nstd213human GRCh37 chr2: 47,990,000-75,070,001 , GRCh38.p12 chr2: 47,762,861-74,842,874 ACTG2, ACYP2, 438 more genes
    nsv6134459copy number variation1nstd213human GRCh37 chr2: 40,080,000-50,820,001 , GRCh38.p12 chr2: 39,852,860-50,592,863 , BCYRN1, 149 more genes
    nsv6134457copy number variation1nstd213human GRCh37 chr2: 38,410,000-75,540,001 , GRCh38.p12 chr2: 38,182,858-75,312,875 , ACTG2, 598 more genes
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5439171copy number variation1nstd206human GRCh38 chr2: 46,970,724-48,057,041 , GRCh37.p13 chr2: 47,197,863-48,284,180 , LOC105374589, 24 more genes
    nsv5381582copy number variation1nstd102humanUncertain significance GRCh37 chr2: 47,672,677-51,259,192 , GRCh38.p12 chr2: 47,445,538-51,032,054 RPL18AP6, RNU6-282P, 39 more genes
    nsv5200283copy number variation1nstd102humanLikely pathogenic GRCh38.p12 chr2: 47,818,457-48,191,783 , GRCh37 chr2: 48,045,596-48,418,922 FBXO11, RPS27AP7, 6 more genes
    nsv5200282copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 48,032,122-48,698,515 , GRCh38.p12 chr2: 47,804,983-48,471,376 MSH6, FOXN2, 12 more genes
    nsv4908631copy number variation1nstd200human GRCh38 chr2: 47,629,975-50,213,084 , GRCh37.p13 chr2: 47,857,114-50,440,222 , NRXN1, 34 more genes
    nsv4892337copy number variation1nstd200human GRCh38 chr2: 47,907,887-47,912,655 , GRCh37.p13 chr2: 48,135,026-48,139,794 LOC105374590, LOC100506235
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