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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5202833copy number variation1nstd204human GRCh38.p13 chr1: 32,336,501-32,344,800 , GRCh37.p13 chr1: 32,802,102-32,810,401 MARCKSL1, LOC105378629
    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
    nsv4454237copy number variation1nstd102humanUncertain significance GRCh37 chr1: 32,139,063-32,940,848 , GRCh38.p12 chr1: 31,673,462-32,475,247 IQCC, TSSK3, 26 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
    nsv4044761copy number variation1nstd166human GRCh37.p13 chr1: 32,800,701-32,801,546 , GRCh38.p12 chr1: 32,335,100-32,335,945 MARCKSL1
    nsv3905012copy number variation1nstd102humanPathogenic GRCh38 chr1: 31,122,108-32,402,160 , GRCh37 chr1: 31,594,955-32,867,761 , NCBI36 chr1: 31,367,542-32,640,348 LDC1P, ADGRB2, 42 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
    nsv3895257copy number variation1nstd102humanPathogenic GRCh37 chr1: 31,239,605-33,825,029 , NCBI36 chr1: 31,012,192-33,597,616 , GRCh38 chr1: 30,766,758-33,359,428 LOC105378623, TINAGL1, 85 more genes
    nsv3891425copy number variation1nstd102humanPathogenic NCBI36 chr1: 28,623,965-33,361,042 , GRCh37 chr1: 28,751,378-33,588,455 , GRCh38 chr1: 28,424,867-33,122,854 SNHG3, LOC105378620, 115 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 , SNAP47, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 , RNU1-153P, 4887 more genes
    nsv3878546copy number variation1nstd102humanUncertain significance GRCh37 chr1: 32,608,682-32,953,541 , GRCh38.p12 chr1: 32,143,081-32,487,940 FAM167B, KPNA6, 18 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 , MARK1, 4930 more genes
    nsv3874782copy number variation1nstd102humanPathogenic GRCh37 chr1: 31,562,164-37,421,958 , GRCh38.p12 chr1: 31,089,317-36,956,357 LOC101929444, GJB4, 143 more genes
    nsv2751752copy number variation1nstd130human GRCh37 chr1: 32,797,583-32,829,933 , GRCh38.p12 chr1: 32,331,982-32,364,332 FAM229A, BSDC1, 4 more genes
    nsv1426984short tandem repeat1nstd128human GRCh37 chr1: 32,802,056-32,802,073 , GRCh38.p12 chr1: 32,336,455-32,336,472 MARCKSL1
    nsv1426983short tandem repeat2nstd128human GRCh37 chr1: 32,801,466-32,801,486 , GRCh38.p12 chr1: 32,335,865-32,335,885 MARCKSL1
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