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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5870761copy number variation1nstd209human GRCh38 chr1: 30,662,412-30,803,026 , GRCh37.p13 chr1: 31,135,259-31,275,873 MATN1, LAPTM5, 4 more genes
    nsv5623313insertion1nstd207human GRCh38 chr1: 30,732,368-30,732,368 , GRCh37.p13 chr1: 31,205,215-31,205,215 LAPTM5
    nsv4903308copy number variation1nstd200human GRCh38 chr1: 30,730,092-30,751,334 , GRCh37.p13 chr1: 31,202,939-31,224,181 LOC105378620, LAPTM5, 1 more genes
    nsv4895726copy number variation1nstd200human GRCh38 chr1: 30,747,974-30,749,890 , GRCh37.p13 chr1: 31,220,821-31,222,737 LAPTM5, LOC105378620
    nsv4780750copy number variation1nstd200human GRCh37 chr1: 31,135,225-31,275,917 , GRCh38.p12 chr1: 30,662,378-30,803,070 MATN1, LAPTM5, 4 more genes
    nsv4772905copy number variation1nstd200human GRCh37 chr1: 31,220,821-31,222,737 , GRCh38.p12 chr1: 30,747,974-30,749,890 LOC105378620, LAPTM5
    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
    nsv4757675insertion1nstd199human GRCh37 chr1: 31,204,999-31,204,999 , GRCh38.p12 chr1: 30,732,152-30,732,152 LAPTM5
    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
    nsv4580995copy number variation1nstd183human GRCh37 chr1: 31,143,035-31,251,698 , GRCh38.p12 chr1: 30,670,188-30,778,851 MATN1, LAPTM5, 4 more genes
    nsv4445070insertion1nstd175human GRCh37 chr1: 31,205,220-31,205,220 , GRCh38.p12 chr1: 30,732,373-30,732,373 LAPTM5
    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
    nsv4378762copy number variation1nstd173human GRCh37 chr1: 31,139,103-31,261,873 , GRCh38.p12 chr1: 30,666,256-30,789,026 MATN1-AS1, LOC105378620, 4 more genes
    nsv4045520copy number variation1nstd166human GRCh37.p13 chr1: 31,225,976-31,226,150 , GRCh38.p12 chr1: 30,753,129-30,753,303 LAPTM5, LOC105378620
    nsv4036764copy number variation1nstd166human GRCh37.p13 chr1: 31,226,000-31,231,000 , GRCh38.p12 chr1: 30,753,153-30,758,153 LAPTM5, LOC105378620
    nsv4033208copy number variation1nstd166human GRCh37.p13 chr1: 31,141,933-31,252,375 , GRCh38.p12 chr1: 30,669,086-30,779,528 MATN1, LAPTM5, 4 more genes
    nsv3959125insertion1nstd168human GRCh38 chr1: 30,691,425-30,741,676 , GRCh37.p13 chr1: 31,164,272-31,214,523 MATN1, LAPTM5, 2 more genes
    nsv3929276insertion1nstd167human GRCh37 chr1: 31,205,215-31,205,215 , GRCh38.p12 chr1: 30,732,368-30,732,368 LAPTM5
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