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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4906213copy number variation1nstd200human GRCh38 chr1: 43,847,976-43,858,874 , GRCh37.p13 chr1: 44,313,648-44,324,546 SHMT1P1, ST3GAL3
    nsv4906212copy number variation1nstd200human GRCh38 chr1: 43,846,727-43,850,432 , GRCh37.p13 chr1: 44,312,399-44,316,104 ST3GAL3, SHMT1P1
    nsv4903416copy number variation1nstd200human GRCh38 chr1: 43,846,771-43,882,194 , GRCh37.p13 chr1: 44,312,443-44,347,866 SHMT1P1, ST3GAL3
    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
    nsv4681882copy number variation1nstd102humanLikely pathogenic GRCh38.p12 chr1: 43,792,082-43,899,747 , GRCh37 chr1: 44,257,753-44,365,419 SHMT1P1, ST3GAL3, 1 more genes
    nsv4461210mobile element insertion1nstd166human GRCh37.p13 chr1: 44,315,134-44,315,134 , GRCh38.p12 chr1: 43,849,462-43,849,462 SHMT1P1, ST3GAL3
    nsv4451506copy number variation1nstd102humanPathogenic GRCh37 chr1: 43,336,799-44,713,202 , GRCh38.p12 chr1: 42,871,128-44,247,530 CCDC24, KRT8P47, 54 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
    nsv4048494copy number variation1nstd166human GRCh37.p13 chr1: 44,227,281-44,415,832 , GRCh38.p12 chr1: 43,761,610-43,950,160 SHMT1P1, ST3GAL3, 5 more genes
    nsv4038704copy number variation1nstd166human GRCh37.p13 chr1: 44,312,443-44,347,723 , GRCh38.p12 chr1: 43,846,771-43,882,051 SHMT1P1, ST3GAL3
    nsv3900473copy number variation1nstd102humanPathogenic GRCh38 chr1: 40,693,289-44,514,104 , GRCh37 chr1: 41,158,961-44,979,776 , NCBI36 chr1: 40,931,548-44,752,363 KDM4A, RN7SL326P, 102 more genes
    nsv3892747copy number variation1nstd102humanPathogenic NCBI36 chr1: 40,700,674-44,906,299 , GRCh37 chr1: 40,928,087-45,133,712 , GRCh38 chr1: 40,462,415-44,668,040 ERMAP, LOC100419796, 116 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
    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
    nsv3870704copy number variation1nstd102humanPathogenic GRCh37 chr1: 42,914,303-45,001,279 , GRCh38.p12 chr1: 42,448,632-44,535,607 TMEM269-DT, DPH2, 74 more genes
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