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Items: 1 to 20 of 174

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099248copy number variation1nstd231human GRCh38.p12 chr1: 172,685,012-173,856,229 , GRCh37 chr1: 172,654,152-173,825,367 TNFSF4, TNFSF18, 19 more genes
    nsv6644749copy number variation1nstd229human GRCh38 chr1: 173,477,545-173,501,885 , GRCh37.p13 chr1: 173,446,684-173,471,024 LOC100506023, PRDX6, 1 more genes
    nsv6644717copy number variation1nstd229human GRCh38 chr1: 172,496,006-174,441,202 , GRCh37.p13 chr1: 172,465,146-174,410,340 RABGAP1L-DT, LOC100506023, 46 more genes
    nsv6644370copy number variation1nstd229human GRCh38 chr1: 173,481,480-173,485,358 , GRCh37.p13 chr1: 173,450,619-173,454,497 PRDX6
    nsv6333744copy number variation1nstd223human GRCh38 chr1: 173,476,801-173,477,500 , GRCh37.p13 chr1: 173,445,940-173,446,639 LOC100506023, PRDX6
    nsv6320340copy number variation1nstd223human GRCh38 chr1: 173,476,601-173,478,500 , GRCh37.p13 chr1: 173,445,740-173,447,639 PRDX6, LOC100506023
    nsv6313519copy number variation1nstd102humanPathogenic GRCh37 chr1: 171,881,608-175,899,893 , GRCh38.p12 chr1: 171,912,468-175,930,757 RNU6-693P, PIGC, 73 more genes
    nsv6310765copy number variation3nstd102humanUncertain significance, Pathogenic GRCh37 chr1: 171,605,065-173,962,123 , GRCh38.p12 chr1: 171,635,925-173,992,985 RNU6-157P, SNORD47, 60 more genes
    nsv6289891copy number variation1nstd102humanPathogenic GRCh38 chr1: 172,987,296-174,843,232 , GRCh37.p13 chr1: 172,956,436-174,812,370 LOC100302291, SNORD75, 41 more genes
    nsv6133933copy number variation1nstd213human GRCh37 chr1: 161,620,000-196,730,001 , GRCh38.p12 chr1: 161,650,210-196,760,871 FASLG, SERPINC1, 510 more genes
    nsv6133600copy number variation1nstd213human GRCh37 chr1: 172,520,000-173,820,001 , GRCh38.p12 chr1: 172,550,860-173,850,863 FASLG, GOT2P2, 22 more genes
    nsv6133567copy number variation1nstd213human GRCh37 chr1: 170,760,000-174,730,001 , GRCh38.p12 chr1: 170,790,859-174,760,863 FASLG, SERPINC1, 87 more genes
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4728659copy number variation1nstd102humanUncertain significance GRCh37 chr1: 173,377,818-173,495,656 , GRCh38.p12 chr1: 173,408,679-173,526,517 SLC9C2, TNFSF4, 3 more genes
    nsv4728231copy number variation1nstd102humanPathogenic GRCh37 chr1: 173,162,501-182,702,252 , GRCh38.p12 chr1: 173,193,362-182,733,117 KIAA1614, STX6, 166 more genes
    nsv4674768copy number variation1nstd102humanPathogenic GRCh37 chr1: 167,430,471-174,635,618 , GRCh38.p12 chr1: 167,461,234-174,666,480 ATP1B1, RNU6-693P, 156 more genes
    nsv4560510mobile element insertion1nstd166human GRCh37.p13 chr1: 173,449,887-173,449,887 , GRCh38.p12 chr1: 173,480,748-173,480,748 PRDX6
    nsv4436666copy number variation1nstd102humanUncertain significance GRCh37 chr1: 173,401,888-174,124,738 , GRCh38.p12 chr1: 173,432,749-174,155,600 SNORA103, SNORD78, 33 more genes
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