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Items: 1 to 20 of 166

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5867941copy number variation1nstd209human GRCh38 chr1: 228,491,628-228,492,812 , GRCh37.p13 chr1: 228,679,329-228,680,513 RNF187
    nsv5829470copy number variation2nstd209human GRCh38 chr1: 228,491,445-228,492,544 , GRCh37.p13 chr1: 228,679,146-228,680,245 RNF187
    nsv5829233copy number variation1nstd209human GRCh38 chr1: 228,487,227-228,509,181 , GRCh37.p13 chr1: 228,674,928-228,696,882 BTNL10P, LOC105373124, 1 more genes
    nsv5609565insertion1nstd207human GRCh38 chr1: 228,494,414-228,494,414 , GRCh37.p13 chr1: 228,682,115-228,682,115 RNF187
    nsv5443943copy number variation1nstd206human GRCh38 chr1: 228,486,593-228,486,787 , GRCh37.p13 chr1: 228,674,294-228,674,488 RNF187
    nsv5439020copy number variation1nstd206human GRCh38 chr1: 228,491,674-228,492,774 , GRCh37.p13 chr1: 228,679,375-228,680,475 RNF187
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv4904424copy number variation1nstd200human GRCh38 chr1: 228,493,508-228,493,811 , GRCh37.p13 chr1: 228,681,209-228,681,512 RNF187
    nsv4904422copy number variation1nstd200human GRCh38 chr1: 228,275,386-228,715,663 , GRCh37.p13 chr1: 228,463,087-228,851,410 DUSP5P1, RNA5S16, 34 more genes
    nsv4899147copy number variation1nstd200human GRCh38 chr1: 228,489,408-228,489,602 , GRCh37.p13 chr1: 228,677,109-228,677,303 RNF187
    nsv4774704copy number variation1nstd200human GRCh37 chr1: 228,679,364-228,680,476 , GRCh38.p12 chr1|NW_018654708.1: 82,862-83,974 , GRCh38.p12 chr1: 228,491,663-228,492,775 RNF187
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4728374copy number variation1nstd102humanLikely benign GRCh37 chr1: 228,456,544-228,716,927 , GRCh38.p12 chr1: 228,268,843-228,529,226 LOC101927401, H3-4, 12 more genes
    nsv4684187copy number variation1nstd102humanPathogenic GRCh37 chr1: 210,152,794-249,218,992 , GRCh38.p12 chr1: 209,979,449-248,924,793 HLX-AS1, OPN3, 740 more genes
    nsv4674785copy number variation1nstd102humanPathogenic GRCh37 chr1: 219,916,966-239,004,378 , GRCh38.p12 chr1: 219,743,624-238,841,078 RPL23AP23, LOC101927143, 414 more genes
    nsv4674693copy number variation1nstd102humanLikely benign GRCh37 chr1: 228,459,781-228,849,579 , GRCh38.p12 chr1: 228,272,080-228,713,832 , GRCh38.p12 chr1|NW_018654708.1: 1-290,835 RNA5S1, TRIM11, 34 more genes
    nsv4674140copy number variation1nstd102humanPathogenic GRCh37 chr1: 204,045,948-249,218,992 , GRCh38.p12 chr1: 204,076,820-248,924,793 RNA5S8, NTPCR, 893 more genes
    nsv4674115copy number variation1nstd102humanPathogenic GRCh37 chr1: 223,653,722-234,591,807 , GRCh38.p12 chr1: 223,480,380-234,456,061 LOC105373163, CDC42BPA, 258 more genes
    nsv4580854copy number variation1nstd183human GRCh37 chr1: 228,660,294-228,742,569 , GRCh38.p12 chr1|NW_018654708.1: 63,792-146,039 , GRCh38.p12 chr1: 228,472,593-228,554,868 BTNL10P, LOC105373124, 2 more genes
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