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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5980451copy number variation1nstd102humanLikely pathogenic GRCh37 chr14: 54,654,001-75,828,024 , GRCh38.p12 chr14: 54,187,283-75,361,321 ACTN1, ACYP1, 400 more genes
    nsv5672732copy number variation1nstd102humanPathogenic GRCh37 chr14: 74,959,886-74,959,987 , GRCh38.p12 chr14: 74,493,183-74,493,284 NPC2, ISCA2
    nsv5510286copy number variation1nstd206human GRCh38 chr14: 74,422,951-74,677,087 , GRCh37.p13 chr14: 74,889,654-75,143,790 LOC105370567, SYNDIG1L, 8 more genes
    nsv5509298copy number variation1nstd206human GRCh38 chr14: 74,493,845-74,494,271 , GRCh37.p13 chr14: 74,960,548-74,960,974 NPC2, ISCA2
    nsv5196837mobile element insertion1nstd203human GRCh38 chr14: 74,487,594-74,487,611 , GRCh37.p13 chr14: 74,954,297-74,954,314 NPC2
    nsv5032025inversion1nstd200human GRCh38 chr14: 53,190,097-88,878,877 , GRCh37.p13 chr14: 53,656,815-89,345,221 , IFT43, 578 more genes
    nsv5004799copy number variation1nstd200human GRCh38 chr14: 74,484,800-74,485,031 , GRCh37.p13 chr14: 74,951,503-74,951,734 NPC2
    nsv4683508copy number variation1nstd102humanPathogenic GRCh37 chr14: 74,946,967-74,959,987 , GRCh38.p12 chr14: 74,480,264-74,493,284 NPC2, ISCA2, 2 more genes
    nsv4680089copy number variation1nstd189human GRCh37.p13 chr14: 74,684,102-75,401,772 , GRCh38.p12 chr14: 74,217,399-74,935,069 DLST, LTBP2, 21 more genes
    nsv4577781mobile element insertion1nstd166human GRCh37.p13 chr14: 74,954,297-74,954,297 , GRCh38.p12 chr14: 74,487,594-74,487,594 NPC2
    nsv4453619copy number variation1nstd102humanUncertain significance GRCh37 chr14: 74,946,957-74,953,159 , GRCh38 chr14: 74,480,254-74,486,456 RAP1AP, MIR4709, 1 more genes
    nsv4349747copy number variation1nstd102humanLikely pathogenic GRCh37 chr14: 74,040,231-76,368,547 , GRCh38.p12 chr14: 73,573,527-75,902,204 ACYP1, ENTPD5, 72 more genes
    nsv4229999copy number variation1nstd166human GRCh37.p13 chr14: 74,958,000-74,963,500 , GRCh38.p12 chr14: 74,491,297-74,496,797 ISCA2, LTBP2, 1 more genes
    nsv4226793copy number variation1nstd166human GRCh37.p13 chr14: 74,941,199-74,948,544 , GRCh38.p12 chr14: 74,474,496-74,481,841 RAP1AP, SYNDIG1L, 2 more genes
    nsv3966474copy number variation1nstd168human GRCh38 chr14: 74,460,034-74,487,912 , GRCh37.p13 chr14: 74,926,737-74,954,615 RAP1AP, MIR4709, 2 more genes
    nsv3923727copy number variation1nstd102humanPathogenic GRCh37 chr14: 70,028,816-82,441,728 , GRCh38 chr14: 69,562,099-81,975,384 , NCBI36 chr14: 69,098,569-81,511,481 CEP128, COX6CP11, 240 more genes
    nsv3923448copy number variation1nstd102humanPathogenic NCBI36 chr14: 73,413,528-77,578,518 , GRCh38 chr14: 73,877,072-78,042,422 , GRCh37 chr14: 74,343,775-78,508,765 ZC2HC1C, RPL21P10, 113 more genes
    nsv3922094copy number variation1nstd102humanPathogenic GRCh38 chr14: 73,655,772-106,879,298 , GRCh37 chr14: 74,122,475-107,287,505 , NCBI36 chr14: 73,192,228-106,358,550 LOC105370614, LOC105370617, 849 more genes
    nsv3919106copy number variation1nstd102humanPathogenic GRCh37 chr14: 20,511,673-107,285,437 , GRCh38 chr14: 20,043,514-106,877,229 , NCBI36 chr14: 19,581,513-106,356,482 SRMP2, IGHV3-71, 1929 more genes
    nsv3919051copy number variation1nstd102humanLikely pathogenic NCBI36 chr14: 72,879,674-78,371,155 , GRCh37 chr14: 73,809,921-79,301,402 , GRCh38 chr14: 73,343,213-78,835,059 ACYP1, ENTPD5, 137 more genes
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