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Items: 1 to 20 of 101

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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
    nsv7047048inversion1nstd229human GRCh38 chr2: 216,286,412-216,579,954 , GRCh37.p13 chr2: 217,151,135-217,444,677 RPL37A-DT, RPL37A, 8 more genes
    nsv6694564copy number variation1nstd229human GRCh38 chr2: 216,497,501-216,499,400 , GRCh37.p13 chr2: 217,362,224-217,364,123 RPL37A-DT, RPL37A
    nsv6694235copy number variation1nstd229human GRCh38 chr2: 216,501,041-216,745,613 , GRCh37.p13 chr2: 217,365,764-217,610,336 IGFBP-AS1, LINC01280, 7 more genes
    nsv6685966copy number variation1nstd229human GRCh38 chr2: 216,286,401-216,589,900 , GRCh37.p13 chr2: 217,151,124-217,454,623 LINC01280, RPL37A-DT, 9 more genes
    nsv6684599copy number variation1nstd229human GRCh38 chr2: 216,262,332-216,787,882 , GRCh37.p13 chr2: 217,127,055-217,652,605 LOC107985983, RPL31P14, 14 more genes
    nsv6682690copy number variation1nstd229human GRCh38 chr2: 216,418,895-216,524,667 , GRCh37.p13 chr2: 217,283,618-217,389,390 RPL37A, LOC101928156, 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
    nsv5076117mobile element insertion1nstd203human GRCh38 chr2: 216,500,953-216,500,969 , GRCh37.p13 chr2: 217,365,676-217,365,692 RPL37A
    nsv5029880inversion1nstd200human GRCh38 chr2: 213,444,845-219,177,092 , GRCh37.p13 chr2: 214,309,569-220,041,814 , LOC102724861, 122 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
    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
    nsv4315068inversion1nstd166human GRCh37.p13 chr2: 208,775,197-231,007,646 , GRCh38.p12 chr2: 207,910,473-230,142,930 , BCS1L, 344 more genes
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