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Items: 1 to 20 of 103

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5294678copy number variation1nstd204human GRCh38.p13 chr22: 41,924,001-41,927,000 , GRCh37.p13 chr22: 42,320,005-42,323,004 TNFRSF13C, CENPM
    nsv5032425inversion1nstd200human GRCh38 chr22: 41,452,969-44,153,937 , GRCh37.p13 chr22: 41,848,973-44,549,817 , LOC101927393, 95 more genes
    nsv4874314copy number variation1nstd200human GRCh37 chr22: 42,323,197-42,323,741 , GRCh38.p12 chr22: 41,927,193-41,927,737 CENPM, TNFRSF13C
    nsv4729926copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,197,005-51,224,252 , GRCh38.p12 chr22: 16,367,190-50,785,824 FBXO7, GTSE1, 1084 more genes
    nsv4729889copy number variation1nstd102humanUncertain significance GRCh37 chr22: 42,158,393-42,409,550 , GRCh38.p12 chr22: 41,762,389-42,013,546 CCDC134, MIR378I, 11 more genes
    nsv4729846copy number variation1nstd102humanUncertain significance GRCh37 chr22: 41,853,620-42,385,978 , GRCh38.p12 chr22: 41,457,616-41,989,974 RNU6ATAC22P, CSDC2, 23 more genes
    nsv4681930copy number variation1nstd102humanUncertain significance GRCh37 chr22: 42,321,351-42,322,797 , GRCh38.p12 chr22: 41,925,347-41,926,793 TNFRSF13C, CENPM
    nsv4676292copy number variation1nstd102humanPathogenic GRCh37 chr22: 30,654,764-51,197,838 , GRCh38.p12 chr22: 30,258,775-50,759,410 PDXP-DT, PDGFB, 550 more genes
    nsv4676232copy number variation1nstd102humanPathogenic GRCh37 chr22: 40,502,364-51,197,838 , GRCh38.p12 chr22: 40,106,360-50,759,410 MIR378I, SNORD13P1, 274 more genes
    nsv4630486copy number variation1nstd183human GRCh37 chr22: 42,277,420-42,625,797 , GRCh38.p12 chr22: 41,881,416-42,229,791 , SEPTIN3, 24 more genes
    nsv4535635copy number variation1nstd166human GRCh37.p13 chr22: 42,200,998-42,447,000 , GRCh38.p12 chr22: 41,804,994-42,050,996 MIR378I, CCDC134, 10 more genes
    nsv4457771copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,888,899-51,197,838 , GRCh38.p12 chr22: 16,408,173-50,759,410 IGLV3-27, XKR3, 1082 more genes
    nsv4426712copy number variation1nstd174human GRCh37 chr22: 42,298,301-42,331,600 , GRCh38.p12 chr22: 41,902,297-41,935,596 SHISA8, MIR378I, 3 more genes
    nsv3924878copy number variation1nstd102humanUncertain significance GRCh38 chr22: 41,764,466-41,998,153 , NCBI36 chr22: 40,490,416-40,724,103 , GRCh37 chr22: 42,160,470-42,394,157 MIR378I, CCDC134, 10 more genes
    nsv3924136copy number variation1nstd102humanPathogenic GRCh38 chr22: 40,202,014-50,735,806 , GRCh37 chr22: 40,598,018-51,174,234 , NCBI36 chr22: 38,927,964-49,521,100 CYP2D8P, TBC1D22A-AS1, 270 more genes
    nsv3919881copy number variation1nstd102humanPathogenic GRCh37 chr22: 17,397,633-51,178,213 , GRCh38 chr22: 16,916,743-50,739,785 , NCBI36 chr22: 15,777,633-49,525,079 MIR12114, MIR6820, 1059 more genes
    nsv3919563copy number variation1nstd102humanUncertain significance GRCh38 chr22: 41,645,339-42,565,798 , NCBI36 chr22: 40,371,289-41,291,748 , GRCh37 chr22: 42,041,343-42,961,804 OLA1P1, NFAM1, 41 more genes
    nsv3919085copy number variation1nstd102humanPathogenic NCBI36 chr22: 17,008,132-49,591,432 , GRCh37.p13 chr22: 18,628,132-51,244,566 , GRCh38.p12 chr22: 18,145,365-50,806,138 IGLV2-28, LINC01310, 1023 more genes
    nsv3913775copy number variation1nstd102humanPathogenic NCBI36 chr22: 15,777,498-49,525,130 , GRCh38 chr22: 16,916,608-50,739,836 , GRCh37 chr22: 17,397,498-51,178,264 ZNF280A, RFPL1S, 1059 more genes
    nsv3912011copy number variation1nstd102humanPathogenic NCBI36 chr22: 40,597,093-49,525,130 , GRCh38 chr22: 41,871,143-50,739,836 , GRCh37 chr22: 42,267,147-51,178,264 TUBGCP6, MAPK12, 213 more genes
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