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Items: 1 to 20 of 123

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5422772copy number variation1nstd206human GRCh38 chr1: 36,083,123-36,086,786 , GRCh37.p13 chr1: 36,548,724-36,552,387 TEKT2
    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
    nsv4663755copy number variation1nstd186human GRCh37 chr1: 36,548,665-36,552,359 , GRCh38.p12 chr1: 36,083,064-36,086,758 TEKT2
    nsv4581651copy number variation1nstd183human GRCh37 chr1: 36,548,665-36,552,359 , GRCh38.p12 chr1: 36,083,064-36,086,758 TEKT2
    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
    nsv4043397copy number variation1nstd166human GRCh37.p13 chr1: 36,548,724-36,552,387 , GRCh38.p12 chr1: 36,083,123-36,086,786 TEKT2
    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
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 , RNU1-153P, 4887 more genes
    nsv3883608copy number variation1nstd102humanPathogenic GRCh37 chr1: 34,830,287-36,945,093 , GRCh38.p12 chr1: 34,364,686-36,479,492 LSM10, STK40, 52 more genes
    nsv3878135copy number variation1nstd102humanUncertain significance GRCh37 chr1: 33,241,563-46,663,513 , GRCh38.p12 chr1: 32,775,962-46,197,841 LINC02786, LOC105378678, 365 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
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