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Items: 1 to 20 of 172

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5070865mobile element insertion1nstd203human GRCh38 chr2: 196,781,357-196,781,388 , GRCh37.p13 chr2: 197,646,081-197,646,112 GTF3C3
    nsv5064710mobile element insertion1nstd203human GRCh38 chr2: 196,781,342-196,781,358 , GRCh37.p13 chr2: 197,646,066-197,646,082 GTF3C3
    nsv5063368mobile element insertion1nstd203human GRCh38 chr2: 196,771,049-196,771,062 , GRCh37.p13 chr2: 197,635,773-197,635,786 GTF3C3
    nsv4768322copy number variation1nstd102humanPathogenic GRCh37 chr2: 197,359,024-201,383,462 , GRCh38.p12 chr2: 196,494,300-200,518,739 ANKRD44-DT, ATP5MC2P3, 48 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
    nsv4728689copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 188,294,864-197,731,939 , GRCh38.p12 chr2: 187,430,137-196,867,215 COL3A1, COL5A2, 98 more genes
    nsv4716529copy number variation1nstd102humanPathogenic GRCh37 chr2: 190,345,272-200,212,289 , GRCh38.p12 chr2: 189,480,546-199,347,566 C2orf66, LINC01821, 105 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
    nsv4465751mobile element insertion1nstd166human GRCh37.p13 chr2: 197,631,715-197,631,715 , GRCh38.p12 chr2: 196,766,991-196,766,991 GTF3C3
    nsv4464861mobile element insertion1nstd166human GRCh37.p13 chr2: 197,658,109-197,658,109 , GRCh38.p12 chr2: 196,793,385-196,793,385 GTF3C3
    nsv4453090copy number variation1nstd102humanPathogenic GRCh37 chr2: 195,786,723-200,531,127 , GRCh38.p12 chr2: 194,921,999-199,666,404 RFTN2, HECW2, 54 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
    nsv4386256copy number variation1nstd173human GRCh37 chr2: 197,484,762-197,687,167 , GRCh38.p12 chr2: 196,620,038-196,822,443 LOC105373823, LOC100130452, 3 more genes
    nsv4368155copy number variation1nstd173human GRCh37 chr2: 197,484,726-197,681,773 , GRCh38.p12 chr2: 196,620,002-196,817,049 CCDC150, C2orf66, 3 more genes
    nsv4342576sequence alteration1nstd166human GRCh37.p13 chr2: 195,106,951-197,630,554 , GRCh38.p12 chr2: 194,242,227-196,765,830 , LOC105373822, 25 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
    nsv4083958copy number variation1nstd166human GRCh37.p13 chr2: 197,630,016-197,630,127 , GRCh38.p12 chr2: 196,765,292-196,765,403 GTF3C3
    nsv4078046copy number variation1nstd166human GRCh37.p13 chr2: 197,613,360-198,101,276 , GRCh38.p12 chr2: 196,748,636-197,236,552 , GTF3C3, 6 more genes
    nsv4074433copy number variation1nstd166human GRCh37.p13 chr2: 197,664,552-197,666,735 , GRCh38.p12 chr2: 196,799,828-196,802,011 GTF3C3
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