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Items: 1 to 20 of 108

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5951397insertion1nstd209human GRCh38 chr1: 31,093,989-31,093,989 , GRCh37.p13 chr1: 31,566,836-31,566,836 SELENOWP1
    nsv5217671copy number variation1nstd204human GRCh38.p13 chr1: 31,049,501-31,104,900 , GRCh37.p13 chr1: 31,522,348-31,577,747 LOC107985097, SELENOWP1, 1 more genes
    nsv4895741copy number variation1nstd200human GRCh38 chr1: 31,092,133-31,097,765 , GRCh37.p13 chr1: 31,564,980-31,570,612 SELENOWP1
    nsv4772920copy number variation1nstd200human GRCh37 chr1: 31,564,980-31,570,613 , GRCh38.p12 chr1: 31,092,133-31,097,766 SELENOWP1
    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
    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
    nsv4581072copy number variation1nstd183human GRCh37 chr1: 31,555,266-31,660,476 , GRCh38.p12 chr1: 31,082,419-31,187,629 RPL21P22, SELENOWP1, 2 more genes
    nsv4571544mobile element insertion1nstd166human GRCh37.p13 chr1: 31,565,724-31,565,724 , GRCh38.p12 chr1: 31,092,877-31,092,877 SELENOWP1
    nsv4517669copy number variation1nstd166human GRCh37.p13 chr1: 31,535,999-31,621,000 , GRCh38.p12 chr1: 31,063,152-31,148,153 SELENOWP1, PUM1, 1 more genes
    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
    nsv4046373copy number variation1nstd166human GRCh37.p13 chr1: 31,567,536-31,567,613 , GRCh38.p12 chr1: 31,094,689-31,094,766 SELENOWP1
    nsv4034303copy number variation1nstd166human GRCh37.p13 chr1: 31,462,859-31,739,206 , GRCh38.p12 chr1: 30,990,012-31,266,359 SNRNP40, PUM1, 5 more genes
    nsv3969621copy number variation1nstd168human GRCh38 chr1: 31,055,207-31,106,948 , GRCh37.p13 chr1: 31,528,054-31,579,795 PUM1, RPL21P22, 1 more genes
    nsv3908863copy number variation1nstd102humanUncertain significance GRCh37 chr1: 31,337,689-32,486,842 , NCBI36 chr1: 31,110,276-32,259,429 , GRCh38 chr1: 30,864,842-32,021,241 LOC107984935, RPL21P22, 32 more genes
    nsv3907483copy number variation1nstd102humanPathogenic GRCh37 chr1: 27,289,536-32,744,646 , GRCh38 chr1: 26,963,045-32,279,045 , NCBI36 chr1: 27,162,123-32,517,233 ATP5IF1, LOC102723760, 138 more genes
    nsv3907102copy number variation1nstd102humanLikely benign NCBI36 chr1: 31,215,017-31,492,686 , GRCh37 chr1: 31,442,430-31,720,099 , GRCh38 chr1: 30,969,583-31,247,252 PUM1, SELENOWP1, 4 more genes
    nsv3902284copy number variation1nstd102humanUncertain significance NCBI36 chr1: 31,057,393-31,648,206 , GRCh37 chr1: 31,284,806-31,872,758 , GRCh38 chr1: 30,811,959-31,402,772 SNRNP40, SNORD103A, 16 more genes
    nsv3901163copy number variation1nstd102humanPathogenic GRCh37 chr1: 24,707,696-41,886,350 , GRCh38 chr1: 24,381,206-41,401,517 , NCBI36 chr1: 24,580,283-41,658,937 TMEM222, ZBTB8OS, 453 more genes
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