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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148184copy number variation1nstd102humanPathogenic GRCh38 chr1: 243,221,458-248,919,110 , GRCh37.p13 chr1: 243,384,760-249,213,309 LOC105373271, LOC107985725, 153 more genes
    nsv7099272copy number variation1nstd231human GRCh38.p12 chr1: 243,197,153-248,437,482 , GRCh37 chr1: 243,360,455-248,600,783 ADSS2, HNRNPU, 124 more genes
    nsv7098854copy number variation1nstd102humanPathogenic GRCh37 chr1: 245,704,069-249,212,562 , GRCh38.p12 chr1: 245,540,767-248,918,363 OR2X1P, OR14A2, 118 more genes
    nsv7057394inversion1nstd229human GRCh38 chr1: 247,044,533-247,159,407 , GRCh37.p13 chr1: 247,207,835-247,322,709 LOC100420880, ZNF669, 6 more genes
    nsv7056583inversion1nstd229human GRCh38 chr1: 246,537,921-247,250,729 , GRCh37.p13 chr1: 246,701,223-247,414,031 ZNF695, LOC100131465, 26 more genes
    nsv7052367inversion1nstd229human GRCh38 chr1: 246,578,540-247,400,101 , GRCh37.p13 chr1: 246,741,842-247,563,403 LOC105373271, KIF28P, 30 more genes
    nsv7051894inversion1nstd229human GRCh38 chr1: 245,875,322-247,636,891 , GRCh37.p13 chr1: 246,038,624-247,800,193 NLRP3, LOC105373273, 46 more genes
    nsv7046282inversion1nstd229human GRCh38 chr1: 246,444,176-247,276,690 , GRCh37.p13 chr1: 246,607,478-247,439,992 LOC100420880, FLJ39095, 30 more genes
    nsv7043773inversion1nstd229human GRCh38 chr1: 247,051,888-247,648,554 , GRCh37.p13 chr1: 247,215,190-247,811,856 OR2C3, ZNF496, 27 more genes
    nsv7043050inversion1nstd229human GRCh38 chr1: 246,982,942-247,630,602 , GRCh37.p13 chr1: 247,146,244-247,793,904 LOC100419806, GCSAML-AS1, 30 more genes
    nsv6676950copy number variation1nstd229human GRCh38 chr1: 247,047,901-247,130,000 , GRCh37.p13 chr1: 247,211,203-247,293,302 ZNF670, LINC02897, 5 more genes
    nsv6675914copy number variation1nstd229human GRCh38 chr1: 247,006,597-247,145,996 , GRCh37.p13 chr1: 247,169,899-247,309,298 ZNF669, LOC100419806, 8 more genes
    nsv6675819copy number variation1nstd229human GRCh38 chr1: 246,991,426-247,124,817 , GRCh37.p13 chr1: 247,154,728-247,288,119 ZNF669, LOC100419806, 8 more genes
    nsv6667761copy number variation1nstd229human GRCh38 chr1: 247,039,941-247,143,646 , GRCh37.p13 chr1: 247,203,243-247,306,948 ZNF670-ZNF695, ZNF669, 6 more genes
    nsv6666731copy number variation1nstd229human GRCh38 chr1: 247,111,920-247,112,476 , GRCh37.p13 chr1: 247,275,222-247,275,778 LINC02897
    nsv6666481copy number variation1nstd229human GRCh38 chr1: 247,108,382-247,108,457 , GRCh37.p13 chr1: 247,271,684-247,271,759 FLJ39095, LINC02897
    nsv6636794copy number variation1nstd102humanPathogenic GRCh37 chr1: 223,972,939-249,224,684 , GRCh38.p12 chr1: 223,785,237-248,930,485 SEPTIN7P13, WNT3A, 546 more genes
    nsv6636648copy number variation1nstd102humanPathogenic GRCh37 chr1: 239,910,960-249,224,684 , GRCh38.p12 chr1: 239,747,660-248,930,485 RFKP1, OR2T29, 206 more genes
    nsv6636282copy number variation1nstd102humanPathogenic GRCh37 chr1: 243,258,050-249,224,684 , GRCh38.p12 chr1: 243,094,748-248,930,485 AHCYP8, OR2M2, 154 more genes
    nsv6636061copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 242,045,197-249,212,668 , GRCh38.p12 chr1: 241,881,895-248,918,469 ADSS2, HNRNPU, 178 more genes
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