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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099193copy number variation1nstd231human GRCh38.p12 chr1: 32,456,017-38,905,781 , GRCh37 chr1: 32,921,618-39,371,453 AK2, COL8A2, 151 more genes
    nsv7054580inversion1nstd229human GRCh38 chr1: 33,076,956-33,688,708 , GRCh37.p13 chr1: 33,542,557-34,154,308 RN7SKP16, ZNF362, 11 more genes
    nsv7046389inversion1nstd229human GRCh38 chr1: 31,492,639-36,569,102 , GRCh37.p13 chr1: 32,017,064-37,034,703 LOC105378642, TMEM35B, 127 more genes
    nsv6313688copy number variation1nstd102humanPathogenic GRCh37 chr1: 33,285,582-47,891,811 , GRCh38.p12 chr1: 32,819,981-47,426,139 LOC107984940, PPIAP36, 407 more genes
    nsv6133869copy number variation1nstd213human GRCh37 chr1: 33,400,000-36,950,001 , GRCh38.p12 chr1: 32,934,399-36,484,400 AK2, COL8A2, 77 more genes
    nsv6040904insertion1nstd212human GRCh38 chr1: 33,356,260-33,356,260 , GRCh37.p13 chr1: 33,821,861-33,821,861 PHC2-AS1, PHC2
    nsv5550915insertion1nstd206human GRCh38 chr1: 33,356,294-33,356,302 , GRCh37.p13 chr1: 33,821,895-33,821,903 PHC2-AS1, PHC2
    nsv5421891copy number variation1nstd206human GRCh38 chr1: 33,349,599-33,352,350 , GRCh37.p13 chr1: 33,815,200-33,817,951 PHC2-AS1, PHC2
    nsv5377364translocation1nstd200human GRCh38 chr1: 33,361,231-33,361,231 , GRCh38 chr1: 3,465,183-3,465,183 , GRCh37.p13 chr1: 33,826,832-33,826,832 , GRCh37.p13 chr1: 3,381,747-3,381,747 PHC2, ARHGEF16, 1 more genes
    nsv5361388translocation1nstd200human GRCh38 chr1: 3,465,125-3,465,125 , GRCh38 chr1: 33,351,109-33,351,109 , GRCh37.p13 chr1: 3,381,689-3,381,689 , GRCh37.p13 chr1: 33,816,710-33,816,710 PHC2, ARHGEF16, 1 more genes
    nsv5339306translocation1nstd200human GRCh37 chr1: 33,816,710-33,816,710 , GRCh37 chr1: 3,381,689-3,381,689 , GRCh38.p12 chr1: 33,351,109-33,351,109 , GRCh38.p12 chr1: 3,465,125-3,465,125 PHC2, ARHGEF16, 1 more genes
    nsv5332497translocation1nstd200human GRCh37 chr1: 33,826,832-33,826,832 , GRCh37 chr1: 3,381,747-3,381,747 , GRCh38.p12 chr1: 3,465,183-3,465,183 , GRCh38.p12 chr1: 33,361,231-33,361,231 PHC2, ARHGEF16, 1 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4763370insertion1nstd199human GRCh37 chr1: 33,821,853-33,821,853 , GRCh38.p12 chr1: 33,356,252-33,356,252 PHC2, PHC2-AS1
    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
    nsv4674454copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 30,819,875-34,380,419 , GRCh38.p12 chr1: 30,347,028-33,914,818 AK2, ADGRB2, 97 more genes
    nsv4594486copy number variation1nstd183human GRCh37 chr1: 33,815,191-33,815,524 , GRCh38.p12 chr1: 33,349,590-33,349,923 PHC2, PHC2-AS1
    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
    nsv4346788copy number variation1nstd102humanPathogenic GRCh37 chr1: 32,859,415-36,454,915 , GRCh38.p12 chr1: 32,393,814-35,989,314 LOC100419802, RPL5P4, 75 more genes
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