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Items: 1 to 20 of 140

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5420780copy number variation1nstd206human GRCh38 chr1: 168,370,710-168,374,479 , GRCh37.p13 chr1: 168,339,948-168,343,717 MIR557
    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
    nsv5041452inversion1nstd200human GRCh38 chr1: 163,441,139-169,028,376 , GRCh37.p13 chr1: 163,410,929-168,997,614 , RPS17P6, 97 more genes
    nsv4784604copy number variation1nstd200human GRCh37 chr1: 168,339,948-168,343,717 , GRCh38.p12 chr1: 168,370,710-168,374,479 MIR557
    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
    nsv4728711copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 164,608,682-169,216,098 , GRCh38.p12 chr1: 164,639,445-169,246,860 ALDH9A1, ATP1B1, 95 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
    nsv4579802copy number variation1nstd183human GRCh37 chr1: 168,339,904-168,343,689 , GRCh38.p12 chr1: 168,370,666-168,374,451 MIR557
    nsv4453493copy number variation1nstd102humanPathogenic GRCh37 chr1: 163,093,021-168,991,239 , GRCh38.p12 chr1: 163,123,231-169,022,001 RNU6-755P, GCSHP5, 101 more genes
    nsv4371136copy number variation1nstd173human GRCh37 chr1: 167,491,881-168,643,013 , GRCh38.p12 chr1: 167,522,644-168,673,775 RPL7AP21, RCSD1, 29 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
    nsv3956985insertion1nstd168human GRCh38 chr1: 168,364,497-168,504,256 , GRCh37.p13 chr1: 168,333,735-168,473,494 LOC441914, MIR557, 3 more genes
    nsv3918947copy number variation1nstd102humanPathogenic NCBI36 chr1: 144,475,856-247,199,719 , GRCh37.p13 chr1: 145,764,499-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 , LOC101060227, 1608 more genes
    nsv3912840copy number variation1nstd102humanPathogenic NCBI36 chr1: 144,764,751-247,199,719 , GRCh37.p13 chr1: 146,053,394-249,233,096 , GRCh38.p12 chr1: 120,836,007-206,268,643 , CRB1, 1608 more genes
    nsv3904950copy number variation1nstd102humanPathogenic GRCh38 chr1: 166,762,832-175,327,423 , NCBI36 chr1: 164,998,693-173,563,182 , GRCh37 chr1: 166,732,069-175,296,559 LINC01681, SELE, 186 more genes
    nsv3901593copy number variation1nstd102humanPathogenic NCBI36 chr1: 161,618,937-174,112,781 , GRCh37 chr1: 163,352,313-175,846,158 , GRCh38 chr1: 163,382,523-175,877,022 NME7, LOC105371618, 233 more genes
    nsv3900459copy number variation1nstd102humanPathogenic GRCh38 chr1: 149,854,269-180,267,197 , NCBI36 chr1: 148,092,455-178,502,955 , GRCh37 chr1: 149,825,831-180,236,332 HORMAD1, BCAN-AS1, 923 more genes
    nsv3896331copy number variation1nstd102humanPathogenic GRCh38 chr1: 164,922,655-180,061,589 , NCBI36 chr1: 163,158,516-178,297,347 , GRCh37 chr1: 164,891,892-180,030,724 GAS5-AS1, RNU7-78P, 290 more genes
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