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Items: 1 to 20 of 176

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7146592insertion1nstd232human GRCh37.p13 chr1: 41,449,131-41,449,131 , GRCh38.p12 chr1: 40,983,459-40,983,459 CTPS1
    nsv7099194copy number variation1nstd231human GRCh38.p12 chr1: 39,146,492-41,396,453 , GRCh37 chr1: 39,612,164-41,862,125 BMP8B, COL9A2, 65 more genes
    nsv7095615copy number variation1nstd102humanUncertain significance GRCh37 chr1: 41,249,766-41,475,917 , GRCh38.p12 chr1: 40,784,094-41,010,245 RN7SL326P, LOC100128362, 5 more genes
    nsv7093051copy number variation1nstd102humanUncertain significance GRCh38 chr1: 40,988,707-40,989,704 , GRCh37 chr1: 41,454,379-41,455,376 CTPS1
    nsv7038879inversion1nstd229human GRCh38 chr1: 40,401,036-42,810,368 , GRCh37.p13 chr1: 40,866,708-43,276,039 CITED4, ZNF684, 53 more genes
    nsv6650065copy number variation1nstd229human GRCh38 chr1: 41,010,753-41,023,898 , GRCh37.p13 chr1: 41,476,425-41,489,570 SLFNL1, SLFNL1-AS1, 1 more genes
    nsv6322922copy number variation1nstd223human GRCh38 chr1: 40,979,001-40,981,200 , GRCh37.p13 chr1: 41,444,673-41,446,872 CTPS1
    nsv6313688copy number variation1nstd102humanPathogenic GRCh37 chr1: 33,285,582-47,891,811 , GRCh38.p12 chr1: 32,819,981-47,426,139 LOC107984940, PPIAP36, 407 more genes
    nsv6313549copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 38,679,545-42,556,292 , GRCh38.p12 chr1: 38,213,873-42,090,621 BMP8B, COL9A2, 93 more genes
    nsv6310872copy number variation1nstd102humanUncertain significance GRCh37 chr1: 41,474,523-41,510,926 , GRCh38.p12 chr1: 41,008,851-41,045,254 SLFNL1-AS1, SCMH1, 2 more genes
    nsv6133994copy number variation1nstd213human GRCh37 chr1: 37,480,000-43,930,001 , GRCh38.p12 chr1: 37,014,399-43,464,330 BMP8B, CDC20, 183 more genes
    nsv5723846mobile element insertion2nstd211human GRCh38 chr1: 40,982,316-40,982,316 , GRCh37.p13 chr1: 41,447,988-41,447,988 CTPS1
    nsv5539735insertion1nstd206human GRCh38 chr1: 40,998,426-40,998,429 , GRCh37.p13 chr1: 41,464,098-41,464,101 CTPS1
    nsv4903399copy number variation1nstd200human GRCh38 chr1: 40,970,742-40,995,358 , GRCh37.p13 chr1: 41,436,414-41,461,030 CTPS1
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4570431mobile element insertion1nstd166human GRCh37.p13 chr1: 41,477,396-41,477,396 , GRCh38.p12 chr1: 41,011,724-41,011,724 CTPS1
    nsv4537905insertion1nstd166human GRCh37.p13 chr1: 41,447,969-41,447,969 , GRCh38.p12 chr1: 40,982,297-40,982,297 CTPS1
    nsv4534306insertion1nstd166human GRCh37.p13 chr1: 41,464,098-41,464,098 , GRCh38.p12 chr1: 40,998,426-40,998,426 CTPS1
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