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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5543590insertion1nstd206human GRCh38 chr1: 52,031,339-52,031,377 , GRCh37.p13 chr1: 52,497,011-52,497,049 KTI12, TXNDC12
    nsv5414751copy number variation1nstd206human GRCh38 chr1: 52,031,361-52,031,692 , GRCh37.p13 chr1: 52,497,033-52,497,364 KTI12, TXNDC12
    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
    nsv5361801translocation1nstd200human GRCh38 chr1: 52,032,326-52,032,326 , GRCh38 chr17: 81,683,763-81,683,763 , GRCh37.p13 chr1: 52,497,998-52,497,998 , GRCh37.p13 chr17: 79,650,793-79,650,793 HGS, TXNDC12, 2 more genes
    nsv5361799translocation1nstd200human GRCh38 chr1: 52,032,326-52,032,326 , GRCh38 chr17: 81,683,126-81,683,126 , GRCh37.p13 chr1: 52,497,998-52,497,998 , GRCh37.p13 chr17: 79,650,156-79,650,156 HGS, TXNDC12, 2 more genes
    nsv5288157copy number variation1nstd204human GRCh38.p13 chr1: 51,789,511-52,097,432 , GRCh37.p13 chr1: 52,255,183-52,563,104 , NRDC, 11 more genes
    nsv5218885copy number variation1nstd204human GRCh38.p13 chr1: 51,789,501-52,097,400 , GRCh37.p13 chr1: 52,255,173-52,563,072 , BTF3L4, 11 more genes
    nsv5062350mobile element insertion1nstd203human GRCh38 chr1: 52,031,326-52,031,339 , GRCh37.p13 chr1: 52,496,998-52,497,011 KTI12, TXNDC12
    nsv4890157copy number variation1nstd200human GRCh38 chr1: 52,019,706-52,031,294 , GRCh37.p13 chr1: 52,485,378-52,496,966 TXNDC12, KTI12
    nsv4890153copy number variation1nstd200human GRCh38 chr1: 51,975,173-52,032,827 , GRCh37.p13 chr1: 52,440,845-52,498,499 TXNDC12, RAB3B, 3 more genes
    nsv4890147copy number variation1nstd200human GRCh38 chr1: 51,789,514-52,097,423 , GRCh37.p13 chr1: 52,255,186-52,563,095 , KTI12, 11 more genes
    nsv4888344inversion1nstd200human GRCh37 chr1: 51,769,169-94,478,994 , GRCh38.p12 chr1: 51,303,497-94,013,438 , ST13P20, 664 more genes
    nsv4783222copy number variation1nstd200human GRCh37 chr1: 52,255,186-52,563,095 , GRCh38.p12 chr1: 51,789,514-52,097,423 , MIR761, 11 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
    nsv4674547copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,272,184-52,505,405 , GRCh38.p12 chr1: 46,806,512-52,039,733 RAB3B, RN7SL290P, 90 more genes
    nsv4594557copy number variation1nstd183human GRCh37 chr1: 52,498,861-52,553,420 , GRCh38.p12 chr1: 52,033,189-52,087,748 TXNDC12-AS1, BTF3L4, 2 more genes
    nsv4581232copy number variation1nstd183human GRCh37 chr1: 52,497,585-52,498,042 , GRCh38.p12 chr1: 52,031,913-52,032,370 TXNDC12, KTI12
    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
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