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Items: 1 to 20 of 189

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5681509mobile element insertion1nstd211human GRCh38 chr2: 206,191,449-206,191,449 , GRCh37.p13 chr2: 207,056,173-207,056,173 CMKLR2
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5451445copy number variation1nstd206human GRCh38 chr2: 206,175,909-206,176,143 , GRCh37.p13 chr2: 207,040,633-207,040,867 CMKLR2
    nsv5442863copy number variation1nstd206human GRCh38 chr2: 206,202,957-206,203,017 , GRCh37.p13 chr2: 207,067,681-207,067,741 CMKLR2-AS, CMKLR2
    nsv5366787translocation1nstd200human GRCh38 chr2: 206,196,409-206,196,409 , GRCh38 chr2: 206,197,428-206,197,428 , GRCh37.p13 chr2: 207,061,133-207,061,133 , GRCh37.p13 chr2: 207,062,152-207,062,152 CMKLR2
    nsv5342015translocation1nstd200human GRCh37 chr2: 207,062,152-207,062,152 , GRCh37 chr2: 207,061,133-207,061,133 , GRCh38.p12 chr2|NW_015495299.1: 306,446-306,446 , GRCh38.p12 chr2: 206,196,409-206,196,409 , GRCh38.p12 chr2: 206,197,428-206,197,428 , GRCh38.p12 chr2|NW_015495299.1: 305,427-305,427 CMKLR2
    nsv5033412inversion1nstd200human GRCh38 chr2: 206,107,842-207,979,103 , GRCh37.p13 chr2: 206,972,566-208,843,827 ATP5POP1, MIR2355, 39 more genes
    nsv4916471copy number variation1nstd200human GRCh38 chr2: 206,197,196-206,197,778 , GRCh37.p13 chr2: 207,061,920-207,062,502 CMKLR2
    nsv4913861copy number variation1nstd200human GRCh38 chr2: 206,037,358-206,205,364 , GRCh37.p13 chr2: 206,902,082-207,070,088 , INO80D, 8 more genes
    nsv4876881inversion1nstd200human GRCh37 chr2: 206,972,566-208,843,827 , GRCh38.p12 chr2: 206,107,842-207,979,103 CREB1, RN7SKP260, 39 more genes
    nsv4804566copy number variation1nstd200human GRCh37 chr2: 206,902,082-207,070,088 , GRCh38.p12 chr2: 206,037,358-206,205,364 , GRCh38.p12 chr2|NW_015495299.1: 146,376-314,382 , EEF1B2, 8 more genes
    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
    nsv4436532copy number variation1nstd102humanPathogenic GRCh37 chr2: 188,926,928-225,298,653 , GRCh38.p12 chr2: 188,062,201-224,433,936 MARS2, KRT18P19, 575 more genes
    nsv4316119inversion1nstd166human GRCh37.p13 chr2: 187,130,612-218,396,189 , GRCh38.p12 chr2: 186,265,885-217,531,466 , ACADL, 453 more genes
    nsv4080621copy number variation1nstd166human GRCh37.p13 chr2: 207,077,103-207,077,190 , GRCh38.p12 chr2: 206,212,379-206,212,466 , GRCh38.p12 chr2|NW_015495299.1: 321,397-321,484 CMKLR2, CMKLR2-AS
    nsv3959814insertion1nstd168human GRCh38 chr2: 206,198,095-206,240,463 , GRCh37.p13 chr2: 207,062,819-207,105,187 CMKLR2, ATP5POP1, 2 more genes
    nsv3924199copy number variation1nstd102humanUncertain significance NCBI36 chr2: 130,861,065-242,751,149 , GRCh37.p13 chr2: 131,144,595-243,102,476 , GRCh38.p12 chr2: 130,387,022-242,160,331 METAP1D, UBE2E3-DT, 1635 more genes
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