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Items: 1 to 20 of 223

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5904007copy number variation1nstd209human GRCh38 chr2: 206,707,734-206,707,789 , GRCh37.p13 chr2: 207,572,458-207,572,513 DYTN
    nsv5832697copy number variation1nstd209human GRCh38 chr2: 206,696,592-206,701,986 , GRCh37.p13 chr2: 207,561,316-207,566,710 DYTN
    nsv5689873mobile element insertion1nstd211human GRCh38 chr2: 206,691,568-206,691,568 , GRCh37.p13 chr2: 207,556,292-207,556,292 DYTN
    nsv5675439mobile element insertion1nstd211human GRCh38 chr2: 206,659,511-206,659,511 , GRCh37.p13 chr2: 207,524,235-207,524,235 DYTN
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5439074copy number variation1nstd206human GRCh38 chr2: 206,707,736-206,707,790 , GRCh37.p13 chr2: 207,572,460-207,572,514 DYTN
    nsv5171473mobile element insertion1nstd203human GRCh38 chr2: 206,704,954-206,704,970 , GRCh37.p13 chr2: 207,569,678-207,569,694 DYTN
    nsv5033412inversion1nstd200human GRCh38 chr2: 206,107,842-207,979,103 , GRCh37.p13 chr2: 206,972,566-208,843,827 ATP5POP1, MIR2355, 39 more genes
    nsv4916484copy number variation1nstd200human GRCh38 chr2: 206,704,933-206,707,269 , GRCh37.p13 chr2: 207,569,657-207,571,993 DYTN
    nsv4916483copy number variation1nstd200human GRCh38 chr2: 206,662,597-206,662,684 , GRCh37.p13 chr2: 207,527,321-207,527,408 DYTN
    nsv4916482copy number variation1nstd200human GRCh38 chr2: 206,647,710-206,650,605 , GRCh37.p13 chr2: 207,512,434-207,515,329 DYTN, FAM237A
    nsv4913866copy number variation1nstd200human GRCh38 chr2: 206,696,631-206,702,409 , GRCh37.p13 chr2: 207,561,355-207,567,133 DYTN
    nsv4876881inversion1nstd200human GRCh37 chr2: 206,972,566-208,843,827 , GRCh38.p12 chr2: 206,107,842-207,979,103 CREB1, RN7SKP260, 39 more genes
    nsv4804571copy number variation1nstd200human GRCh37 chr2: 207,561,355-207,567,133 , GRCh38.p12 chr2: 206,696,631-206,702,409 DYTN
    nsv4795680copy number variation1nstd200human GRCh37 chr2: 207,512,434-207,515,329 , GRCh38.p12 chr2: 206,647,710-206,650,605 FAM237A, DYTN
    nsv4769348copy number variation1nstd102humanUncertain significance GRCh37 chr2: 204,312,776-208,235,204 , GRCh38.p12 chr2: 203,448,053-207,370,480 PARD3B, DSTNP5, 50 more genes
    nsv4728725copy number variation1nstd102humanPathogenic GRCh37 chr2: 178,397,959-243,007,457 , GRCh38.p12 chr2: 177,533,231-242,065,306 LOC105376755, FZD7, 1013 more genes
    nsv4728545copy number variation1nstd102humanPathogenic GRCh37 chr2: 204,445,619-212,580,788 , GRCh38.p12 chr2: 203,580,896-211,716,063 FASTKD2, MYL6BP1, 110 more genes
    nsv4674383copy number variation1nstd102humanPathogenic GRCh37 chr2: 163,233,162-211,927,188 , GRCh38.p12 chr2: 162,376,652-211,062,464 SNORA41, LOC101929633, 663 more genes
    nsv4595289copy number variation1nstd183human GRCh37 chr2: 207,572,580-207,575,084 , GRCh38.p12 chr2: 206,707,856-206,710,360 DYTN
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