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Items: 1 to 20 of 204

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7053948inversion1nstd229human GRCh38 chr2: 236,325,891-239,580,552 , GRCh37.p13 chr2: 237,234,534-240,502,246 PER2, MIR4269, 60 more genes
    nsv7047549inversion1nstd229human GRCh38 chr2: 236,010,287-240,118,231 , GRCh37.p13 chr2: 236,918,931-241,057,648 RAB17, COL6A3, 74 more genes
    nsv6716554copy number variation1nstd229human GRCh38 chr2: 237,091,529-237,091,611 , GRCh37.p13 chr2: 238,000,172-238,000,254 COPS8
    nsv6709283copy number variation1nstd229human GRCh38 chr2: 236,031,460-237,450,881 , GRCh37.p13 chr2: 236,940,104-238,359,524 GBX2, LOC105373945, 22 more genes
    nsv6708039copy number variation1nstd229human GRCh38 chr2: 237,045,400-237,298,988 , GRCh37.p13 chr2: 237,954,043-238,207,631 LOC105373954, LOC93463, 3 more genes
    nsv6701870copy number variation1nstd229human GRCh38 chr2: 235,899,114-238,770,175 , GRCh37.p13 chr2: 236,807,758-239,678,816 RN7SL204P, RBM44, 55 more genes
    nsv6636841copy number variation1nstd102humanPathogenic GRCh37 chr2: 236,878,509-242,783,384 , GRCh38.p12 chr2: 235,969,865-241,841,232 COPS8-DT, MTND5P46, 128 more genes
    nsv6636673copy number variation1nstd102humanPathogenic GRCh37 chr2: 235,942,616-242,783,384 , GRCh38.p12 chr2: 235,033,972-241,841,232 LINC02991, OR6B3, 136 more genes
    nsv6345379copy number variation1nstd223human GRCh38 chr2: 237,085,301-237,086,400 , GRCh37.p13 chr2: 237,993,944-237,995,043 COPS8
    nsv6315457copy number variation1nstd102humanPathogenic GRCh37 chr2: 236,472,789-242,783,384 , GRCh38.p12 chr2: 235,564,145-241,841,232 AGAP1, OR5S1P, 130 more genes
    nsv6315436copy number variation1nstd102humanPathogenic GRCh37 chr2: 233,227,837-242,783,384 , GRCh38.p12 chr2: 232,363,127-241,841,232 LOC105373929, LOC105373932, 204 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6314846copy number variation1nstd102humanPathogenic GRCh38 chr2: 236,710,422-242,106,504 , GRCh37.p13 chr2: 237,619,065-243,048,655 LINC01937, FAM240C, 126 more genes
    nsv6313668copy number variation1nstd102humanPathogenic GRCh37 chr2: 219,606,537-239,217,703 , GRCh38.p12 chr2: 218,741,814-238,309,062 LOC105373947, RN7SL764P, 357 more genes
    nsv6311563copy number variation2nstd102humanPathogenic, Uncertain significance GRCh37 chr2: 236,403,331-242,801,596 , GRCh38.p12 chr2: 235,494,687-241,859,444 HDAC4-AS1, COPS8-DT, 134 more genes
    nsv6291434copy number variation1nstd102humanPathogenic GRCh37 chr2: 237,499,041-242,783,384 , GRCh38.p12 chr2: 236,590,398-241,841,232 LINC01107, COL6A3, 118 more genes
    nsv5906411copy number variation1nstd209human GRCh38 chr2: 237,094,514-237,094,587 , GRCh37.p13 chr2: 238,003,157-238,003,230 COPS8
    nsv5678372mobile element insertion2nstd211human GRCh38 chr2: 237,085,636-237,085,636 , GRCh37.p13 chr2: 237,994,279-237,994,279 COPS8
    nsv5673218copy number variation1nstd102humanPathogenic GRCh37 chr2: 237,481,970-238,305,470 , GRCh38.p12 chr2: 236,573,327-237,396,827 LOC105373946, LOC105373949, 13 more genes
    nsv5606880insertion1nstd207human GRCh38 chr2: 237,088,360-237,088,360 , GRCh37.p13 chr2: 237,997,003-237,997,003 COPS8
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