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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5684008mobile element insertion2nstd211human GRCh38 chr2: 191,795,787-191,795,787 , GRCh37.p13 chr2: 192,660,513-192,660,513 LOC729254
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5445047copy number variation1nstd206human GRCh38 chr2: 191,816,694-191,826,206 , GRCh37.p13 chr2: 192,681,420-192,690,932 LOC729254
    nsv5442507copy number variation1nstd206human GRCh38 chr2: 191,819,182-191,819,286 , GRCh37.p13 chr2: 192,683,908-192,684,012 LOC729254
    nsv5397482mobile element insertion1nstd206human GRCh38 chr2: 191,795,787-191,795,838 , GRCh37.p13 chr2: 192,660,513-192,660,564 LOC729254
    nsv5076456mobile element insertion1nstd203human GRCh38 chr2: 191,815,150-191,815,164 , GRCh37.p13 chr2: 192,679,876-192,679,890 LOC729254
    nsv4909978copy number variation1nstd200human GRCh38 chr2: 191,811,214-191,813,373 , GRCh37.p13 chr2: 192,675,940-192,678,099 LOC729254
    nsv4909977copy number variation1nstd200human GRCh38 chr2: 191,790,820-191,790,901 , GRCh37.p13 chr2: 192,655,546-192,655,627 LOC729254, LOC105373812
    nsv4741098copy number variation1nstd199human GRCh37 chr2: 192,680,493-192,680,548 , GRCh38.p12 chr2: 191,815,767-191,815,822 LOC729254
    nsv4728725copy number variation1nstd102humanPathogenic GRCh37 chr2: 178,397,959-243,007,457 , GRCh38.p12 chr2: 177,533,231-242,065,306 LOC105376755, FZD7, 1013 more genes
    nsv4728689copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 188,294,864-197,731,939 , GRCh38.p12 chr2: 187,430,137-196,867,215 COL3A1, COL5A2, 98 more genes
    nsv4728159copy number variation1nstd102humanUncertain significance GRCh37 chr2: 192,323,572-193,027,152 , GRCh38.p12 chr2: 191,458,846-192,162,426 TMEFF2, DNAJB1P1, 6 more genes
    nsv4716529copy number variation1nstd102humanPathogenic GRCh37 chr2: 190,345,272-200,212,289 , GRCh38.p12 chr2: 189,480,546-199,347,566 C2orf66, LINC01821, 105 more genes
    nsv4674757copy number variation1nstd102humanPathogenic GRCh37 chr2: 174,690,039-195,521,582 , GRCh38.p12 chr2: 173,825,311-194,656,858 OSBPL6, DNAJC19P5, 256 more genes
    nsv4674383copy number variation1nstd102humanPathogenic GRCh37 chr2: 163,233,162-211,927,188 , GRCh38.p12 chr2: 162,376,652-211,062,464 SNORA41, LOC101929633, 663 more genes
    nsv4595223copy number variation1nstd183human GRCh37 chr2: 192,538,415-192,813,550 , GRCh38.p12 chr2: 191,673,689-191,948,824 , CAVIN2, 6 more genes
    nsv4464817mobile element insertion1nstd166human GRCh37.p13 chr2: 192,679,876-192,679,876 , GRCh38.p12 chr2: 191,815,150-191,815,150 LOC729254
    nsv4451512copy number variation1nstd102humanPathogenic GRCh37 chr2: 167,329,586-192,756,373 , GRCh38.p12 chr2: 166,473,076-191,891,647 LINC01117, LOC107985958, 339 more genes
    nsv4436532copy number variation1nstd102humanPathogenic GRCh37 chr2: 188,926,928-225,298,653 , GRCh38.p12 chr2: 188,062,201-224,433,936 MARS2, KRT18P19, 575 more genes
    nsv4316119inversion1nstd166human GRCh37.p13 chr2: 187,130,612-218,396,189 , GRCh38.p12 chr2: 186,265,885-217,531,466 , ACADL, 453 more genes
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