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Items: 1 to 20 of 139

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5673411copy number variation1nstd102humanPathogenic GRCh37 chr1: 53,662,606-53,668,111 , GRCh38.p12 chr1: 53,196,934-53,202,439 CPT2
    nsv5381135copy number variation1nstd102humanPathogenic GRCh37 chr1: 51,941,877-56,688,514 , GRCh38.p12 chr1: 51,476,205-56,222,842 LRP8-DT, LRRC42, 122 more genes
    nsv4903506copy number variation1nstd200human GRCh38 chr1: 53,186,220-53,200,066 , GRCh37.p13 chr1: 53,651,892-53,665,738 CPT2P1, CPT2, 1 more genes
    nsv4890205copy number variation1nstd200human GRCh38 chr1: 53,148,082-53,225,205 , GRCh37.p13 chr1: 53,613,754-53,690,877 LOC105378724, CPT2, 3 more genes
    nsv4888344inversion1nstd200human GRCh37 chr1: 51,769,169-94,478,994 , GRCh38.p12 chr1: 51,303,497-94,013,438 , ST13P20, 664 more genes
    nsv4768338copy number variation1nstd102humanPathogenic GRCh37 chr1: 53,675,707-66,644,963 , GRCh38.p12 chr1: 53,210,035-66,179,280 TALDO1P1, LAMTOR5P1, 201 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4684006insertion1nstd102humanPathogenic GRCh37 chr1: 53,676,498-53,676,498 , GRCh38 chr1: 53,210,826-53,210,826 CPT2
    nsv4683773copy number variation1nstd102humanUncertain significance GRCh37 chr1: 53,662,606-53,679,277 , GRCh38.p12 chr1: 53,196,934-53,213,605 CPT2, CZIB
    nsv4683028copy number variation1nstd102humanPathogenic GRCh37 chr1: 53,662,606-53,662,777 , GRCh38.p12 chr1: 53,196,934-53,197,105 CPT2
    nsv4681459copy number variation1nstd102humanPathogenic GRCh37 chr1: 53,666,381-53,668,111 , GRCh38.p12 chr1: 53,200,709-53,202,439 CPT2
    nsv4674651copy number variation1nstd102humanLikely benign GRCh37 chr1: 53,039,602-53,734,721 , GRCh38.p12 chr1: 52,573,930-53,269,049 TUBBP10, CPT2P1, 27 more genes
    nsv4533952insertion1nstd166human GRCh37.p13 chr1: 53,676,487-53,676,487 , GRCh38.p12 chr1: 53,210,815-53,210,815 CPT2
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 LINC01776, IGSF21-AS1, 1853 more genes
    nsv4326932inversion1nstd166human GRCh37.p13 chr1: 35,173,490-93,458,530 , GRCh38.p12 chr1: 34,707,889-92,992,973 , ATP6V0B, 1069 more genes
    nsv4047420copy number variation1nstd166human GRCh37.p13 chr1: 53,678,663-53,678,715 , GRCh38.p12 chr1: 53,212,991-53,213,043 CPT2, CZIB
    nsv3899721copy number variation1nstd102humanLikely pathogenic NCBI36 chr1: 53,025,763-67,578,144 , GRCh37 chr1: 53,253,175-67,805,556 , GRCh38 chr1: 52,787,503-67,339,873 AK4, C8A, 230 more genes
    nsv3896927copy number variation1nstd102humanPathogenic GRCh37 chr1: 53,061,024-77,233,450 , GRCh38 chr1: 52,595,352-76,767,765 , NCBI36 chr1: 52,833,612-77,006,038 DNAI4, LOC105378770, 346 more genes
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