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Items: 16

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    Number of Variants: 16

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148201copy number variation1nstd102humanPathogenic GRCh38 chr3: 93,979,547-124,774,010 , GRCh37.p13 chr3: 93,698,391-124,492,857 CEP97, NECTIN3, 418 more genes
    nsv3918661copy number variation1nstd102humanPathogenic NCBI36 chr3: 95,088,205-124,418,220 , GRCh37 chr3: 93,605,515-122,935,530 , GRCh38 chr3: 93,886,671-123,216,683 CEP97, MTCO2P29, 401 more genes
    nsv3917160copy number variation1nstd102humanPathogenic NCBI36 chr3: 95,021,157-118,088,593 , GRCh38 chr3: 93,819,623-116,887,056 , GRCh37 chr3: 93,538,467-116,605,903 CEP97, ATP6V1A, 297 more genes
    nsv3910775copy number variation1nstd102humanPathogenic GRCh37 chr3: 97,514,213-115,382,196 , GRCh38 chr3: 97,795,369-115,663,349 , NCBI36 chr3: 98,996,903-116,864,886 CEP97, ZBTB11-AS1, 258 more genes
    nsv3911662copy number variation1nstd102humanPathogenic NCBI36 chr3: 102,633,427-117,731,277 , GRCh37.p13 chr3: 101,150,737-116,248,587 , GRCh38.p12 chr3: 101,431,893-116,529,740 CEP97, SIDT1, 188 more genes
    nsv6311846copy number variation1nstd102humanPathogenic GRCh37 chr3: 100,945,813-101,484,395 , GRCh38.p12 chr3: 101,226,969-101,765,551 CEP97, IMPG2, 15 more genes
    nsv3885606copy number variation1nstd102humanPathogenic GRCh37 chr3: 60,174-197,948,027 , GRCh38.p12 chr3: 18,496-198,221,156 CEP97, RNU4-62P, 2880 more genes
    nsv3889228copy number variation2nstd102humanPathogenic GRCh37 chr3: 61,892-197,851,986 , GRCh38.p12 chr3: 20,214-198,125,115 CEP97, NDUFB4, 2876 more genes
    nsv3880617copy number variation1nstd102humanPathogenic GRCh37 chr3: 61,495-197,838,262 , GRCh38.p12 chr3: 19,817-198,111,391 CEP97, RPL23AP49, 2875 more genes
    nsv3922717copy number variation1nstd102humanPathogenic NCBI36 chr3: 95,002,154-146,895,858 , GRCh38 chr3: 93,800,620-145,695,381 , GRCh37 chr3: 93,519,464-145,413,168 CEP97, OR7E53P, 794 more genes
    nsv4728581copy number variation1nstd102humanLikely pathogenic GRCh37 chr3: 95,563,096-102,371,126 , GRCh38.p12 chr3: 95,844,252-102,652,282 CEP97, COL8A1, 107 more genes
    nsv3911724copy number variation1nstd102humanLikely pathogenic NCBI36 chr3: 95,021,157-105,090,283 , GRCh37 chr3: 93,538,467-103,607,593 , GRCh38 chr3: 93,819,623-103,888,749 CEP97, COL8A1, 132 more genes
    nsv3884686copy number variation1nstd102humanLikely pathogenic GRCh37 chr3: 100,613,996-108,976,446 , GRCh38.p12 chr3: 100,895,152-109,257,599 CEP97, ALCAM, 94 more genes
    nsv3919242copy number variation1nstd102humanLikely benign GRCh38 chr3: 101,596,165-102,374,145 , NCBI36 chr3: 102,797,699-103,575,679 , GRCh37 chr3: 101,315,009-102,092,989 CEP97, NFKBIZ, 11 more genes
    nsv3924042copy number variation1nstd102humanUncertain significance GRCh37 chr3: 101,345,155-101,463,803 , GRCh38 chr3: 101,626,311-101,744,959 , NCBI36 chr3: 102,827,845-102,946,493 CEP97, RPL24, 4 more genes
    nsv6313516copy number variation1nstd102humanUncertain significance GRCh37 chr3: 101,191,611-101,938,521 , GRCh38.p12 chr3: 101,472,767-102,219,677 CEP97, ZBTB11-AS1, 15 more genes
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