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Items: 1 to 20 of 179

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    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
    nsv7038879inversion1nstd229human GRCh38 chr1: 40,401,036-42,810,368 , GRCh37.p13 chr1: 40,866,708-43,276,039 CITED4, ZNF684, 53 more genes
    nsv6650053copy number variation1nstd229human GRCh38 chr1: 40,512,701-40,515,300 , GRCh37.p13 chr1: 40,978,373-40,980,972 EXO5
    nsv6650052copy number variation1nstd229human GRCh38 chr1: 40,508,683-40,510,850 , GRCh37.p13 chr1: 40,974,355-40,976,522 EXO5-DT, EXO5
    nsv6650051copy number variation1nstd229human GRCh38 chr1: 40,508,282-40,516,755 , GRCh37.p13 chr1: 40,973,954-40,982,427 EXO5-DT, EXO5
    nsv6650050copy number variation1nstd229human GRCh38 chr1: 40,506,092-40,507,928 , GRCh37.p13 chr1: 40,971,764-40,973,600 EXO5, EXO5-DT
    nsv6649383copy number variation1nstd229human GRCh38 chr1: 40,502,146-40,508,610 , GRCh37.p13 chr1: 40,967,818-40,974,282 EXO5, EXO5-DT
    nsv6636519copy number variation1nstd102humanUncertain significance GRCh37 chr1: 40,758,393-41,009,559 , GRCh38.p12 chr1: 40,292,721-40,543,887 COL9A2, SMAP2, 7 more genes
    nsv6626450copy number variation1nstd224human GRCh37 chr1: 40,960,619-41,010,454 , GRCh38.p12 chr1: 40,494,947-40,544,782 ZNF684, EXO5-DT, 2 more genes
    nsv6536825inversion1nstd223human GRCh38 chr1: 40,513,593-40,514,239 , GRCh37.p13 chr1: 40,979,265-40,979,911 EXO5
    nsv6333995copy number variation1nstd223human GRCh38 chr1: 40,496,501-40,591,900 , GRCh37.p13 chr1: 40,962,173-41,057,572 ZFP69, GTF2F2P2, 5 more genes
    nsv6333489copy number variation1nstd223human GRCh38 chr1: 40,511,089-40,516,360 , GRCh37.p13 chr1: 40,976,761-40,982,032 EXO5
    nsv6322307copy number variation1nstd223human GRCh38 chr1: 40,514,161-40,516,485 , GRCh37.p13 chr1: 40,979,833-40,982,157 EXO5
    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
    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
    nsv5984125copy number variation1nstd212human GRCh38 chr1: 40,511,005-40,517,400 , GRCh37.p13 chr1: 40,976,677-40,983,072 EXO5
    nsv5880519copy number variation1nstd209human GRCh38 chr1: 40,510,999-40,517,411 , GRCh37.p13 chr1: 40,976,671-40,983,083 EXO5
    nsv5830315copy number variation1nstd209human GRCh38 chr1: 40,511,042-40,517,697 , GRCh37.p13 chr1: 40,976,714-40,983,369 EXO5
    nsv5425169copy number variation1nstd206human GRCh38 chr1: 40,510,999-40,517,400 , GRCh37.p13 chr1: 40,976,671-40,983,072 EXO5
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