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Items: 1 to 20 of 129

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099191copy number variation1nstd231human GRCh38.p12 chr1: 29,821,343-31,198,272 , GRCh37 chr1: 30,294,190-31,671,119 MATN1, LAPTM5, 21 more genes
    nsv7044103inversion1nstd229human GRCh38 chr1: 26,905,652-33,050,814 , GRCh37.p13 chr1: 27,232,143-33,516,415 ADGRB2, SNORA16A, 169 more genes
    nsv6648608copy number variation1nstd229human GRCh38 chr1: 30,712,815-30,848,383 , GRCh37.p13 chr1: 31,185,662-31,321,230 MIR4420, LOC105378620, 6 more genes
    nsv6626250copy number variation1nstd224human GRCh37 chr1: 31,148,956-31,247,236 , GRCh38.p12 chr1: 30,676,109-30,774,389 MATN1, LAPTM5, 4 more genes
    nsv6316978copy number variation1nstd223human GRCh38 chr1: 30,669,086-30,779,524 , GRCh37.p13 chr1: 31,141,933-31,252,371 MIR4420, LOC105378621, 4 more genes
    nsv6313753copy number variation1nstd102humanUncertain significance GRCh37 chr1: 27,543,877-32,819,121 , GRCh38.p12 chr1: 27,217,386-32,353,520 DCDC2B, SNRNP40, 130 more genes
    nsv5983586copy number variation1nstd212human GRCh38 chr1: 30,209,364-32,642,526 , GRCh37.p13 chr1: 30,682,211-33,108,127 , HDAC1, 69 more genes
    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
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