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Items: 1 to 20 of 189

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7057345inversion1nstd229human GRCh38 chr2: 129,898,796-130,726,919 , GRCh37.p13 chr2: 130,656,369-131,484,492 FAR2P2, POTEF, 53 more genes
    nsv7054595inversion1nstd229human GRCh38 chr2: 129,115,794-130,999,381 , GRCh37.p13 chr2: 129,873,367-131,756,954 LOC646674, CYP4F27P, 65 more genes
    nsv7053338inversion1nstd229human GRCh38 chr2: 129,419,773-131,102,874 , GRCh37.p13 chr2: 130,177,346-131,860,447 RPL19P4, PRSS40A, 65 more genes
    nsv7048610inversion1nstd229human GRCh38 chr2: 129,502,833-131,219,594 , GRCh37.p13 chr2: 130,260,406-131,977,167 LOC105373614, TRE-TTC1-1, 67 more genes
    nsv7048046inversion1nstd229human GRCh38 chr2: 129,956,844-130,016,528 , GRCh37.p13 chr2: 130,714,417-130,774,101 ARHGAP42P2, RAB6C-AS1, 3 more genes
    nsv6685046copy number variation1nstd229human GRCh38 chr2: 129,034,609-130,295,093 , GRCh37.p13 chr2: 129,792,182-131,052,666 NMTRQ-TTG7-1, MTATP6P7, 41 more genes
    nsv6683648copy number variation1nstd229human GRCh38 chr2: 129,734,146-130,184,868 , GRCh37.p13 chr2: 130,491,719-130,942,441 SMPD4, LOC105373616, 19 more genes
    nsv6680409copy number variation1nstd229human GRCh38 chr2: 129,969,055-129,988,410 , GRCh37.p13 chr2: 130,726,628-130,745,983 RAB6C-AS1, RAB6C
    nsv6679692copy number variation1nstd229human GRCh38 chr2: 128,625,642-138,426,614 , GRCh37.p13 chr2: 129,383,216-139,184,184 MTND4P27, LOC646674, 194 more genes
    nsv6627320copy number variation1nstd224human GRCh37 chr2: 130,543,746-130,737,026 , GRCh38.p12 chr2: 129,786,173-129,979,453 RAB6C, PLAC9P1, 6 more genes
    nsv6544474inversion1nstd223human GRCh38 chr2: 129,956,844-130,016,528 , GRCh37.p13 chr2: 130,714,417-130,774,101 RAB6C, LOC646674, 3 more genes
    nsv6542883inversion1nstd223human GRCh38 chr2: 129,979,633-131,364,141 , GRCh37.p13 chr2: 130,737,206-132,121,714 SSBP3P2, KLF2P2, 69 more genes
    nsv6536888inversion1nstd223human GRCh38 chr2: 129,115,769-130,999,356 , GRCh37.p13 chr2: 129,873,342-131,756,929 FAR2P2, ARHGEF4, 65 more genes
    nsv6351384copy number variation1nstd223human GRCh38 chr2: 129,405,746-130,030,304 , GRCh37.p13 chr2: 130,163,319-130,787,877 PPIAP65, LOC105373613, 13 more genes
    nsv6343109copy number variation1nstd223human GRCh38 chr2: 128,625,639-138,426,614 , GRCh37.p13 chr2: 129,383,213-139,184,184 CYP4F30P, CCDC74B, 194 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6314748copy number variation1nstd102humanPathogenic GRCh37 chr2: 112,475,655-145,691,999 , GRCh38.p12 chr2: 111,718,078-144,934,432 MED15P9, TMEM37, 474 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
    nsv6291353copy number variation1nstd102humanPathogenic GRCh37 chr2: 111,484,468-146,333,604 , GRCh38.p12 chr2: 110,726,891-145,576,036 LINC01120, LOC105373585, 490 more genes
    nsv6290867copy number variation1nstd102humanPathogenic GRCh37 chr2: 122,699,106-143,799,629 , GRCh38.p12 chr2: 121,941,530-143,042,060 RNU6-675P, RNU6-1049P, 300 more genes
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