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Items: 1 to 20 of 159

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099250copy number variation1nstd231human GRCh38.p12 chr1: 174,623,673-177,335,804 , GRCh37 chr1: 174,592,811-177,304,940 ASTN1, TNR, 29 more genes
    nsv7044079inversion1nstd229human GRCh38 chr1: 174,711,171-179,623,233 , GRCh37.p13 chr1: 174,680,309-179,592,368 LOC100420262, RNU6-307P, 71 more genes
    nsv6645149copy number variation1nstd229human GRCh38 chr1: 175,023,901-175,030,100 , GRCh37.p13 chr1: 174,993,037-174,999,236 MRPS14
    nsv6645148copy number variation1nstd229human GRCh38 chr1: 174,968,582-175,319,578 , GRCh37.p13 chr1: 174,937,719-175,288,714 RPS29P4, MRPS14, 9 more genes
    nsv6644638copy number variation1nstd229human GRCh38 chr1: 174,908,298-175,062,960 , GRCh37.p13 chr1: 174,877,435-175,032,096 ENTR1P2, LOC105371622, 6 more genes
    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
    nsv6289986copy number variation1nstd102humanPathogenic GRCh38 chr1: 173,501,975-175,305,010 , GRCh37.p13 chr1: 173,471,114-175,274,146 GAS5-AS1, ENTR1P2, 44 more genes
    nsv6289872copy number variation1nstd102humanPathogenic GRCh38 chr1: 173,686,375-176,083,118 , GRCh37.p13 chr1: 173,655,514-176,052,254 ENTR1P2, GAS5-AS1, 49 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
    nsv6133749copy number variation1nstd213human GRCh37 chr1: 173,530,000-175,550,001 , GRCh38.p12 chr1: 173,560,861-175,580,865 SERPINC1, KIAA0040, 46 more genes
    nsv6133573copy number variation1nstd213human GRCh37 chr1: 173,820,000-189,960,001 , GRCh38.p12 chr1: 173,850,862-189,990,871 ABL2, ASTN1, 235 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
    nsv4904041copy number variation1nstd200human GRCh38 chr1: 174,996,461-175,514,710 , GRCh37.p13 chr1: 174,965,598-175,483,846 ENTR1P2, LOC105371623, 8 more genes
    nsv4781279copy number variation1nstd200human GRCh37 chr1: 174,965,598-175,483,846 , GRCh38.p12 chr1: 174,996,461-175,514,710 TNR, MRPS14, 8 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
    nsv4728270copy number variation1nstd102humanUncertain significance GRCh37 chr1: 174,410,914-178,743,636 , GRCh38.p12 chr1: 174,441,776-178,774,501 LINC01741, MRPS14, 52 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
    nsv4674280copy number variation1nstd102humanUncertain significance GRCh37 chr1: 174,974,791-177,024,710 , GRCh38.p12 chr1: 175,005,655-177,055,574 ENTR1P2, PTP4A1P7, 20 more genes
    nsv4436225copy number variation1nstd102humanPathogenic GRCh37 chr1: 172,652,343-183,538,289 , GRCh38.p12 chr1: 172,683,203-183,569,154 KIAA1614-AS1, LOC105371630, 190 more genes
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