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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
    nsv5829833copy number variation1nstd209human GRCh38 chr1: 30,661,800-30,718,206 , GRCh37.p13 chr1: 31,134,647-31,191,053 MATN1, MATN1-AS1
    nsv5829687copy number variation1nstd209human GRCh38 chr1: 30,713,753-30,716,006 , GRCh37.p13 chr1: 31,186,600-31,188,853 MATN1
    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
    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
    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
    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
    nsv4041408copy number variation1nstd166human GRCh37.p13 chr1: 31,154,633-31,182,340 , GRCh38.p12 chr1: 30,681,786-30,709,493 MATN1
    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
    nsv3956758copy number variation1nstd168human GRCh38 chr1: 30,691,425-30,717,321 , GRCh37.p13 chr1: 31,164,272-31,190,168 MATN1, MATN1-AS1
    nsv3918474copy number variation1nstd102humanLikely benign NCBI36 chr1: 30,327,512-30,958,593 , GRCh37.p13 chr1: 30,554,925-31,186,006 , GRCh38.p12 chr1: 30,082,078-30,713,159 LOC105378617, MATN1, 1 more genes
    nsv3909270copy number variation1nstd102humanUncertain significance GRCh37 chr1: 30,333,074-31,337,748 , NCBI36 chr1: 30,105,661-31,110,335 , GRCh38 chr1: 29,860,227-30,864,901 LINC01778, LOC105378620, 10 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
    nsv3902515copy number variation1nstd102humanUncertain significance GRCh38 chr1: 29,015,141-30,983,083 , GRCh37 chr1: 29,341,653-31,455,930 , NCBI36 chr1: 29,214,240-31,228,517 PUM1, SDC3, 24 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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