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Items: 1 to 20 of 131

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099297copy number variation1nstd231human GRCh38.p12 chr1: 58,444,770-67,143,664 , GRCh37 chr1: 58,910,442-67,609,347 AK4, CYP2J2, 125 more genes
    nsv7099208copy number variation1nstd231human GRCh38.p12 chr1: 59,526,542-66,009,490 , GRCh37 chr1: 59,992,214-66,475,173 AK4, CYP2J2, 96 more genes
    nsv7095627copy number variation1nstd102humanPathogenic GRCh37 chr1: 61,548,464-67,861,772 , GRCh38.p12 chr1: 61,082,792-67,396,089 ALG6, MIR3116-2, 94 more genes
    nsv7057709inversion1nstd229human GRCh38 chr1: 64,458,584-64,638,606 , GRCh37.p13 chr1: 64,924,267-65,104,289 LOC107984966, CACHD1, 1 more genes
    nsv7039143inversion1nstd229human GRCh38 chr1: 61,633,784-64,711,589 , GRCh37.p13 chr1: 62,099,456-65,177,272 MGC34796, RN7SL130P, 53 more genes
    nsv6653086copy number variation1nstd229human GRCh38 chr1: 64,573,283-64,581,171 , GRCh37.p13 chr1: 65,038,966-65,046,854 MIR4794, CACHD1
    nsv6550232inversion1nstd223human GRCh38 chr1: 64,458,584-64,638,606 , GRCh37.p13 chr1: 64,924,267-65,104,289 CACHD1, MIR4794, 1 more genes
    nsv6542115inversion1nstd223human GRCh38 chr1: 61,925,268-71,371,290 , GRCh37.p13 chr1: 62,390,940-71,836,973 PATJ, GNG12-AS1, 142 more genes
    nsv5421520copy number variation1nstd206human GRCh38 chr1: 64,381,391-64,626,882 , GRCh37.p13 chr1: 64,847,074-65,092,565 CACHD1, MIR4794, 3 more genes
    nsv4888344inversion1nstd200human GRCh37 chr1: 51,769,169-94,478,994 , GRCh38.p12 chr1: 51,303,497-94,013,438 , ST13P20, 664 more genes
    nsv4768338copy number variation1nstd102humanPathogenic GRCh37 chr1: 53,675,707-66,644,963 , GRCh38.p12 chr1: 53,210,035-66,179,280 TALDO1P1, LAMTOR5P1, 201 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
    nsv4581475copy number variation1nstd183human GRCh37 chr1: 64,847,072-65,092,566 , GRCh38.p12 chr1: 64,381,389-64,626,883 LOC105378774, LOC107984966, 3 more genes
    nsv4569767sequence alteration1nstd166human GRCh37.p13 chr1: 64,924,266-65,104,289 , GRCh38.p12 chr1: 64,458,583-64,638,606 CACHD1, MIR4794, 1 more genes
    nsv4453663copy number variation1nstd102humanPathogenic GRCh37 chr1: 59,922,631-72,058,653 , GRCh38.p12 chr1: 59,456,959-71,592,970 RNU6-387P, MIR3671, 170 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
    nsv4326932inversion1nstd166human GRCh37.p13 chr1: 35,173,490-93,458,530 , GRCh38.p12 chr1: 34,707,889-92,992,973 , ATP6V0B, 1069 more genes
    nsv3962698copy number variation1nstd168human GRCh38 chr1: 64,557,567-64,578,219 , GRCh37.p13 chr1: 65,023,250-65,043,902 CACHD1, MIR4794
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