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Items: 1 to 20 of 106

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148056copy number variation1nstd102humanPathogenic GRCh37 chr2: 186,698,504-223,918,111 , GRCh38.p12 chr2: 185,833,777-223,053,393 DNAJB1P1, MTCO2P17, 580 more genes
    nsv7045942inversion1nstd229human GRCh38 chr2: 216,859,591-216,860,961 , GRCh37.p13 chr2: 217,724,314-217,725,684 IGFBP-AS1, TNP1
    nsv6697528copy number variation1nstd229human GRCh38 chr2: 216,859,018-216,859,078 , GRCh37.p13 chr2: 217,723,741-217,723,801 IGFBP-AS1, TNP1
    nsv6692461copy number variation1nstd229human GRCh38 chr2: 216,858,152-216,858,309 , GRCh37.p13 chr2: 217,722,875-217,723,032 TNP1, IGFBP-AS1
    nsv6686849copy number variation1nstd229human GRCh38 chr2: 216,815,140-216,921,601 , GRCh37.p13 chr2: 217,679,863-217,786,324 IGFBP-AS1, TESHL, 2 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6313686copy number variation1nstd102humanPathogenic GRCh37 chr2: 215,108,009-221,679,980 , GRCh38.p12 chr2: 214,243,285-220,815,260 BCS1L, LOC105373880, 160 more genes
    nsv6134650copy number variation1nstd213human GRCh37 chr2: 216,790,000-218,420,001 , GRCh38.p12 chr2: 215,925,277-217,555,278 IGFBP2, IGFBP5, 32 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
    nsv5323832translocation1nstd204human GRCh37.p13 chr2: 217,723,110-217,723,110 , GRCh37.p13 chr2: 217,723,157-217,723,157 , GRCh38.p13 chr2: 216,858,387-216,858,387 , GRCh38.p13 chr2: 216,858,434-216,858,434 TNP1, IGFBP-AS1
    nsv5029880inversion1nstd200human GRCh38 chr2: 213,444,845-219,177,092 , GRCh37.p13 chr2: 214,309,569-220,041,814 , LOC102724861, 122 more genes
    nsv4916838copy number variation1nstd200human GRCh38 chr2: 216,857,704-216,858,549 , GRCh37.p13 chr2: 217,722,427-217,723,272 TNP1, IGFBP-AS1
    nsv4913929copy number variation1nstd200human GRCh38 chr2: 216,858,152-216,858,310 , GRCh37.p13 chr2: 217,722,875-217,723,033 IGFBP-AS1, TNP1
    nsv4795942copy number variation1nstd200human GRCh37 chr2: 217,722,498-217,722,846 , GRCh38.p12 chr2: 216,857,775-216,858,123 IGFBP-AS1, TNP1
    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
    nsv4728446copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 215,122,019-220,397,907 , GRCh38.p12 chr2: 214,257,295-219,533,185 AAMP, ATIC, 139 more genes
    nsv4673965copy number variation1nstd102humanPathogenic GRCh37 chr2: 216,883,237-220,953,003 , GRCh38.p12 chr2: 216,018,514-220,088,282 LOC105373887, STK11IP, 138 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
    nsv4435891copy number variation1nstd102humanPathogenic GRCh37 chr2: 210,779,657-239,879,183 , GRCh38.p12 chr2: 209,914,933-238,957,487 XRCC5, LINC01173, 494 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
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