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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6137788copy number variation1nstd102humanPathogenic GRCh37 chr2: 24,601,818-43,466,284 , GRCh38.p12 chr2: 24,378,949-43,239,145 GTF3C2-AS1, MAPRE3-AS1, 316 more genes
    nsv6112680copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 24,881,528-43,460,021 , GRCh38.p12 chr2: 24,658,659-43,232,882 ADCY3, ALK, 314 more genes
    nsv5880187copy number variation1nstd209human GRCh38 chr2: 37,120,508-37,121,263 , GRCh37.p13 chr2: 37,347,651-37,348,406 EIF2AK2
    nsv5572461copy number variation1nstd207human GRCh38 chr2: 37,120,508-37,121,262 , GRCh37.p13 chr2: 37,347,651-37,348,405 EIF2AK2
    nsv5443812copy number variation1nstd206human GRCh38 chr2: 37,120,498-37,121,281 , GRCh37.p13 chr2: 37,347,641-37,348,424 EIF2AK2
    nsv5440895copy number variation1nstd206human GRCh38 chr2: 37,120,284-37,120,725 , GRCh37.p13 chr2: 37,347,427-37,347,868 EIF2AK2
    nsv5384258copy number variation1nstd186human GRCh37 chr2: 37,347,670-37,348,398 , GRCh38.p12 chr2: 37,120,527-37,121,255 EIF2AK2
    nsv5383962copy number variation1nstd186human GRCh37 chr2: 37,347,429-37,347,861 , GRCh38.p12 chr2: 37,120,286-37,120,718 EIF2AK2
    nsv5382381copy number variation1nstd186human GRCh37 chr2: 37,347,677-37,348,398 , GRCh38.p12 chr2: 37,120,534-37,121,255 EIF2AK2
    nsv5375211translocation1nstd200human GRCh38 chr2: 37,121,840-37,121,840 , GRCh38 chr2: 37,123,392-37,123,392 , GRCh37.p13 chr2: 37,350,535-37,350,535 , GRCh37.p13 chr2: 37,348,983-37,348,983 EIF2AK2
    nsv5375209translocation1nstd200human GRCh38 chr2: 37,121,391-37,121,391 , GRCh38 chr2: 37,124,694-37,124,694 , GRCh37.p13 chr2: 37,351,837-37,351,837 , GRCh37.p13 chr2: 37,348,534-37,348,534 EIF2AK2
    nsv5296215copy number variation1nstd204human GRCh38.p13 chr2: 37,087,219-37,302,265 , GRCh37.p13 chr2: 37,314,362-37,529,408 EIF2AK2, CEBPZ, 7 more genes
    nsv5287365copy number variation1nstd204human GRCh37.p13 chr2: 37,290,015-37,405,346 , GRCh38.p13 chr2: 37,062,872-37,178,203 EIF2AK2, HEATR5B, 3 more genes
    nsv5213961copy number variation1nstd204human GRCh38.p13 chr2: 37,088,649-37,152,880 , GRCh37.p13 chr2: 37,315,792-37,380,023 GPATCH11, EIF2AK2, 1 more genes
    nsv5212823copy number variation1nstd204human GRCh38.p13 chr2: 37,098,170-37,099,826 , GRCh37.p13 chr2: 37,325,313-37,326,969 GPATCH11, EIF2AK2
    nsv5212268copy number variation1nstd204human GRCh38.p13 chr2: 37,119,709-37,122,632 , GRCh37.p13 chr2: 37,346,852-37,349,775 EIF2AK2
    nsv5210459mobile element deletion1nstd204human GRCh38.p13 chr2: 37,120,494-37,121,247 , GRCh37.p13 chr2: 37,347,637-37,348,390 EIF2AK2
    nsv5209267copy number variation1nstd204human GRCh38.p13 chr2: 37,120,501-37,121,200 , GRCh37.p13 chr2: 37,347,644-37,348,343 EIF2AK2
    nsv5208220copy number variation1nstd204human GRCh37.p13 chr2: 37,369,969-37,434,572 , GRCh38.p13 chr2: 37,142,826-37,207,429 EIF2AK2, CEBPZ, 4 more genes
    nsv5207492copy number variation1nstd204human GRCh38.p13 chr2: 37,144,476-37,145,814 , GRCh37.p13 chr2: 37,371,619-37,372,957 EIF2AK2
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