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Items: 1 to 20 of 148

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5730143mobile element insertion1nstd211human GRCh38 chr1: 59,915,947-59,915,947 , GRCh37.p13 chr1: 60,381,619-60,381,619 CYP2J2
    nsv5213021copy number variation1nstd204human GRCh38.p13 chr1: 59,923,701-59,926,000 , GRCh37.p13 chr1: 60,389,373-60,391,672 CYP2J2
    nsv4903555copy number variation1nstd200human GRCh38 chr1: 59,796,358-59,899,218 , GRCh37.p13 chr1: 60,262,030-60,364,890 CYP2J2, LOC105378758, 1 more genes
    nsv4888344inversion1nstd200human GRCh37 chr1: 51,769,169-94,478,994 , GRCh38.p12 chr1: 51,303,497-94,013,438 , ST13P20, 664 more genes
    nsv4768338copy number variation1nstd102humanPathogenic GRCh37 chr1: 53,675,707-66,644,963 , GRCh38.p12 chr1: 53,210,035-66,179,280 TALDO1P1, LAMTOR5P1, 201 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4453663copy number variation1nstd102humanPathogenic GRCh37 chr1: 59,922,631-72,058,653 , GRCh38.p12 chr1: 59,456,959-71,592,970 RNU6-387P, MIR3671, 170 more genes
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 LINC01776, IGSF21-AS1, 1853 more genes
    nsv4326932inversion1nstd166human GRCh37.p13 chr1: 35,173,490-93,458,530 , GRCh38.p12 chr1: 34,707,889-92,992,973 , ATP6V0B, 1069 more genes
    nsv3971290insertion1nstd168human GRCh38 chr1: 59,912,223-59,918,286 , GRCh37.p13 chr1: 60,377,895-60,383,958 CYP2J2
    nsv3966965insertion1nstd168human GRCh38 chr1: 59,926,764-59,953,802 , GRCh37.p13 chr1: 60,392,436-60,419,474 CYP2J2
    nsv3909388copy number variation1nstd102humanPathogenic GRCh37 chr1: 57,816,246-71,791,607 , GRCh38 chr1: 57,350,574-71,325,924 , NCBI36 chr1: 57,588,834-71,564,195 RNU6-1031P, LOC107984963, 193 more genes
    nsv3909357copy number variation1nstd102humanUncertain significance NCBI36 chr1: 60,109,298-62,267,615 , GRCh38 chr1: 59,871,038-62,029,355 , GRCh37 chr1: 60,336,710-62,495,027 CYP2J2, LOC107984963, 23 more genes
    nsv3903468copy number variation1nstd102humanPathogenic NCBI36 chr1: 59,870,760-76,969,150 , GRCh37 chr1: 60,098,172-77,196,562 , GRCh38 chr1: 59,632,500-76,730,877 WLS, LOC105378776, 219 more genes
    nsv3901841copy number variation1nstd102humanPathogenic GRCh38 chr1: 59,760,856-71,578,052 , NCBI36 chr1: 59,999,116-71,816,323 , GRCh37 chr1: 60,226,528-72,043,735 MIR3116-2, NFIA-AS2, 169 more genes
    nsv3901546copy number variation1nstd102humanPathogenic NCBI36 chr1: 59,057,865-86,336,882 , GRCh37 chr1: 59,285,277-86,564,294 , GRCh38 chr1: 58,819,605-86,098,611 ROR1, RNA5SP51, 333 more genes
    nsv3899721copy number variation1nstd102humanLikely pathogenic NCBI36 chr1: 53,025,763-67,578,144 , GRCh37 chr1: 53,253,175-67,805,556 , GRCh38 chr1: 52,787,503-67,339,873 AK4, C8A, 230 more genes
    nsv3896927copy number variation1nstd102humanPathogenic GRCh37 chr1: 53,061,024-77,233,450 , GRCh38 chr1: 52,595,352-76,767,765 , NCBI36 chr1: 52,833,612-77,006,038 DNAI4, LOC105378770, 346 more genes
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