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Items: 1 to 20 of 190

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096574copy number variation1nstd102humanPathogenic GRCh37 chr2: 165,946,660-167,108,415 , GRCh38.p12 chr2: 165,090,150-166,251,905 SCN3A, MAPRE1P3, 11 more genes
    nsv7096378copy number variation1nstd102humanPathogenic GRCh37 chr2: 166,605,291-166,868,812 , GRCh38.p12 chr2: 165,748,781-166,012,302 GALNT3, SCN1A, 4 more genes
    nsv7096373copy number variation1nstd102humanUncertain significance GRCh37 chr2: 165,946,660-166,894,662 , GRCh38.p12 chr2: 165,090,150-166,038,152 TTC21B, SCN3A, 8 more genes
    nsv6682939copy number variation1nstd229human GRCh38 chr2: 165,808,394-165,913,850 , GRCh37.p13 chr2: 166,664,904-166,770,360 LOC100506124, TTC21B
    nsv6681669copy number variation1nstd229human GRCh38 chr2: 165,869,080-165,931,288 , GRCh37.p13 chr2: 166,725,590-166,787,798 LOC100506124, TTC21B
    nsv6680732copy number variation1nstd229human GRCh38 chr2: 165,784,282-165,905,812 , GRCh37.p13 chr2: 166,640,792-166,762,322 GALNT3, LOC100506124, 1 more genes
    nsv6343432copy number variation1nstd223human GRCh38 chr2: 165,858,896-165,859,545 , GRCh37.p13 chr2: 166,715,406-166,716,055 LOC100506124
    nsv6315583copy number variation1nstd102humanPathogenic GRCh38 chr2: 165,047,221-166,068,633 , GRCh37.p13 chr2: 165,903,731-166,925,143 TTC21B-AS1, TTC21B, 8 more genes
    nsv6315581copy number variation1nstd102humanPathogenic GRCh38 chr2: 165,284,919-167,536,383 , GRCh37.p13 chr2: 166,141,429-168,392,893 XIRP2-AS1, TTC21B-AS1, 15 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6315160copy number variation1nstd102humanPathogenic GRCh37 chr2: 160,347,642-174,075,851 , GRCh38.p12 chr2: 159,491,131-173,211,123 EIF3EP3, FAP, 158 more genes
    nsv6313838copy number variation1nstd102humanPathogenic GRCh37 chr2: 165,428,510-166,888,012 , GRCh38.p12 chr2: 164,572,000-166,031,502 RNA5SP111, TTC21B-AS1, 16 more genes
    nsv6313780copy number variation1nstd102humanPathogenic GRCh37 chr2: 161,551,326-167,762,790 , GRCh38.p12 chr2: 160,694,815-166,906,280 SCN9A, FIGN, 60 more genes
    nsv6311536copy number variation3nstd102humanUncertain significance, Pathogenic GRCh37 chr2: 166,210,682-167,168,266 , GRCh38.p12 chr2: 165,354,172-166,311,756 LOC100506124, SCN1A, 9 more genes
    nsv6311467copy number variation1nstd102humanUncertain significance GRCh37 chr2: 165,946,660-166,898,954 , GRCh38.p12 chr2: 165,090,150-166,042,444 TTC21B-AS1, SCN3A, 8 more genes
    nsv6290252copy number variation1nstd102humanPathogenic GRCh37 chr2: 166,152,284-167,760,450 , GRCh38.p12 chr2: 165,295,774-166,903,940 SCN1A, CSRNP3, 12 more genes
    nsv6134500copy number variation1nstd213human GRCh37 chr2: 149,790,000-179,310,001 , GRCh38.p12 chr2: 148,934,069-178,445,274 , ACVR1, 394 more genes
    nsv5673293copy number variation1nstd102humanPathogenic GRCh37 chr2: 166,605,291-167,168,266 , GRCh38.p12 chr2: 165,748,781-166,311,756 GALNT3, SCN1A, 7 more genes
    nsv5564252copy number variation5nstd102humanPathogenic GRCh37 chr2: 165,946,660-167,168,266 , GRCh38.p12 chr2: 165,090,150-166,311,756 TTC21B-AS1, RN7SKP152, 11 more genes
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
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