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Items: 1 to 20 of 163

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099247copy number variation1nstd231human GRCh38.p12 chr1: 171,697,692-172,567,791 , GRCh37 chr1: 171,666,832-172,536,931 PIGC, VAMP4, 16 more genes
    nsv6644765copy number variation1nstd229human GRCh38 chr1: 171,564,330-172,954,419 , GRCh37.p13 chr1: 171,533,469-172,923,559 LOC107985225, RPS15P3, 27 more genes
    nsv6634366copy number variation1nstd102humanUncertain significance GRCh37 chr1: 171,649,657-172,399,870 , GRCh38.p12 chr1: 171,680,517-172,430,730 RNU6-157P, C1orf105, 15 more genes
    nsv6319910copy number variation1nstd223human GRCh38 chr1: 172,140,301-172,141,300 , GRCh37.p13 chr1: 172,109,441-172,110,440 DNM3, DNM3OS
    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
    nsv6133942copy number variation1nstd213human GRCh37 chr1: 171,750,000-172,200,001 , GRCh38.p12 chr1: 171,780,860-172,230,861 DNM3, METTL13, 7 more genes
    nsv6133940copy number variation1nstd213human GRCh37 chr1: 170,740,000-173,330,001 , GRCh38.p12 chr1: 170,770,859-173,360,862 TNFSF4, VAMP4, 50 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
    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
    nsv5212097copy number variation1nstd204human GRCh38.p13 chr1: 172,138,501-172,142,600 , GRCh37.p13 chr1: 172,107,641-172,111,740 MIR3120, MIR199A2, 3 more genes
    nsv5200337copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 172,050,936-172,181,677 , GRCh38.p12 chr1: 172,081,796-172,212,537 DNM3, MIR199A2, 3 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
    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
    nsv4459685mobile element insertion1nstd166human GRCh37.p13 chr1: 172,106,902-172,106,902 , GRCh38.p12 chr1: 172,137,762-172,137,762 DNM3, MIR214, 2 more genes
    nsv4346686copy number variation1nstd102humanPathogenic GRCh37 chr1: 169,423,492-180,367,623 , GRCh38.p12 chr1: 169,454,254-180,398,488 TNFSF4, MIR3119-1, 202 more genes
    nsv4346684copy number variation1nstd102humanPathogenic GRCh37 chr1: 160,369,890-175,796,325 , GRCh38.p12 chr1: 160,400,100-175,827,189 LINC00626, RN7SL861P, 359 more genes
    nsv4327204inversion1nstd166human GRCh37.p13 chr1: 156,223,026-186,411,081 , GRCh38.p12 chr1: 156,253,235-186,441,949 , FASLG, 707 more genes
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