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Items: 1 to 20 of 135

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5952337insertion1nstd209human GRCh38 chr1: 66,045,743-66,045,743 , GRCh37.p13 chr1: 66,511,426-66,511,426 PDE4B-AS1, PDE4B
    nsv5728951mobile element insertion2nstd211human GRCh38 chr1: 66,045,752-66,045,752 , GRCh37.p13 chr1: 66,511,435-66,511,435 PDE4B, PDE4B-AS1
    nsv5559595mobile element insertion1nstd206human GRCh38 chr1: 66,045,752-66,045,803 , GRCh37.p13 chr1: 66,511,435-66,511,486 PDE4B-AS1, PDE4B
    nsv5165952mobile element insertion1nstd203human GRCh38 chr1: 66,045,743-66,045,752 , GRCh37.p13 chr1: 66,511,426-66,511,435 PDE4B, PDE4B-AS1
    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
    nsv4581484copy number variation1nstd183human GRCh37 chr1: 66,503,575-66,511,443 , GRCh38.p12 chr1: 66,037,892-66,045,760 PDE4B, PDE4B-AS1
    nsv4559752mobile element insertion1nstd166human GRCh37.p13 chr1: 66,511,426-66,511,426 , GRCh38.p12 chr1: 66,045,743-66,045,743 PDE4B-AS1, PDE4B
    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
    nsv4450384copy number variation1nstd102humannot provided GRCh37 chr1: 66,085,524-88,429,789 , GRCh38.p12 chr1: 65,619,841-87,964,106 DEPDC1, ERICH3-AS1, 264 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
    nsv4046069copy number variation1nstd166human GRCh37.p13 chr1: 66,501,674-66,516,590 , GRCh38.p12 chr1: 66,035,991-66,050,907 PDE4B, PDE4B-AS1
    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
    nsv3907158copy number variation1nstd102humanPathogenic GRCh38 chr1: 64,072,618-75,518,432 , NCBI36 chr1: 64,310,878-75,756,705 , GRCh37 chr1: 64,538,290-75,984,117 SGIP1, INSL5, 134 more genes
    nsv3906889copy number variation1nstd102humanLikely pathogenic NCBI36 chr1: 65,182,796-67,830,274 , GRCh37 chr1: 65,410,208-68,057,686 , GRCh38 chr1: 64,944,525-67,592,003 AK4, IL12RB2, 39 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
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