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Items: 1 to 20 of 180

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5879066copy number variation1nstd209human GRCh38 chr1: 36,120,516-36,121,156 , GRCh37.p13 chr1: 36,586,117-36,586,757 COL8A2
    nsv5875565copy number variation1nstd209human GRCh38 chr1: 36,119,968-36,120,021 , GRCh37.p13 chr1: 36,585,569-36,585,622 COL8A2
    nsv5430240copy number variation1nstd206human GRCh38 chr1: 36,119,968-36,120,028 , GRCh37.p13 chr1: 36,585,569-36,585,629 COL8A2
    nsv5415359copy number variation1nstd206human GRCh38 chr1: 36,120,073-36,121,140 , GRCh37.p13 chr1: 36,585,674-36,586,741 COL8A2
    nsv5330585translocation1nstd200human GRCh37 chr1: 36,585,629-36,585,629 , GRCh37 chr1: 36,585,569-36,585,569 , GRCh38.p12 chr1: 36,119,968-36,119,968 , GRCh38.p12 chr1: 36,120,028-36,120,028 COL8A2
    nsv5064313mobile element insertion1nstd203human GRCh38 chr1: 36,103,438-36,103,453 , GRCh37.p13 chr1: 36,569,039-36,569,054 COL8A2
    nsv4773067copy number variation1nstd200human GRCh37 chr1: 36,586,025-36,587,247 , GRCh38.p12 chr1: 36,120,424-36,121,646 COL8A2
    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
    nsv4461888mobile element insertion1nstd166human GRCh37.p13 chr1: 36,574,569-36,574,569 , GRCh38.p12 chr1: 36,108,968-36,108,968 COL8A2
    nsv4450729copy number variation1nstd102humanUncertain significance GRCh37 chr1: 36,496,921-36,829,945 , GRCh38.p12 chr1: 36,031,320-36,364,344 UBE2V2P4, LOC100128093, 11 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
    nsv4387151copy number variation1nstd173human GRCh37 chr1: 36,535,714-36,567,961 , GRCh38.p12 chr1: 36,070,113-36,102,360 LOC100128093, COL8A2, 3 more genes
    nsv4375524copy number variation1nstd173human GRCh37 chr1: 36,535,218-36,635,695 , GRCh38.p12 chr1: 36,069,617-36,170,094 ADPRS, MAP7D1, 5 more genes
    nsv4326932inversion1nstd166human GRCh37.p13 chr1: 35,173,490-93,458,530 , GRCh38.p12 chr1: 34,707,889-92,992,973 , ATP6V0B, 1069 more genes
    nsv4050086copy number variation1nstd166human GRCh37.p13 chr1: 36,586,144-36,586,741 , GRCh38.p12 chr1: 36,120,543-36,121,140 COL8A2
    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
    nsv3893192copy number variation1nstd102humanLikely pathogenic NCBI36 chr1: 36,172,405-37,060,187 , GRCh37 chr1: 36,399,818-37,287,600 , GRCh38 chr1: 35,934,217-36,821,999 COL8A2, CSF3R, 23 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 , SNAP47, 4927 more genes
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