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Items: 1 to 20 of 73

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5558010sequence alteration1nstd206human GRCh38 chr11: 6,386,705-6,390,511 , GRCh37.p13 chr11: 6,407,935-6,411,741 SMPD1
    nsv5373409translocation1nstd200human GRCh38 chr11: 6,386,891-6,386,891 , GRCh38 chr11: 6,390,167-6,390,167 , GRCh37.p13 chr11: 6,408,121-6,408,121 , GRCh37.p13 chr11: 6,411,397-6,411,397 SMPD1
    nsv5373408translocation1nstd200human GRCh38 chr11: 6,386,706-6,386,706 , GRCh38 chr11: 6,390,511-6,390,511 , GRCh37.p13 chr11: 6,411,741-6,411,741 , GRCh37.p13 chr11: 6,407,936-6,407,936 SMPD1
    nsv5332154translocation1nstd200human GRCh37 chr11: 6,411,397-6,411,397 , GRCh37 chr11: 6,408,121-6,408,121 , GRCh38.p12 chr11: 6,386,891-6,386,891 , GRCh38.p12 chr11: 6,390,167-6,390,167 SMPD1
    nsv4768373copy number variation1nstd102humanPathogenic GRCh37 chr11: 210,300-8,664,358 , GRCh38.p12 chr11: 210,300-8,642,811 LOC107984302, STK33, 375 more genes
    nsv4751865inversion1nstd199human GRCh37 chr11: 1,620,303-71,272,233 , GRCh38.p12 chr11: 1,599,073-71,561,187 , ACP2, 1686 more genes
    nsv4741272copy number variation1nstd199human GRCh37 chr11: 3,487,146-67,605,076 , GRCh38.p12 chr11: 3,465,916-67,837,605 , DRAP1, 1535 more genes
    nsv4681173copy number variation2nstd102humanUncertain significance GRCh37 chr11: 5,709,028-6,640,651 , GRCh38.p12 chr11: 5,687,798-6,619,420 OR56B2P, TRIM3, 50 more genes
    nsv4674879copy number variation1nstd102humanPathogenic GRCh37 chr11: 235,934-33,826,995 , GRCh38.p12 chr11: 235,934-33,805,449 BGLT3, RPL21P97, 723 more genes
    nsv4558235sequence alteration1nstd166human GRCh37.p13 chr11: 6,407,935-6,411,741 , GRCh38.p12 chr11: 6,386,705-6,390,511 SMPD1
    nsv4456235copy number variation1nstd102humanUncertain significance GRCh37 chr11: 5,896,551-6,719,852 , GRCh38.p12 chr11: 5,875,321-6,698,621 OR52X1P, LOC112268071, 40 more genes
    nsv4350476copy number variation1nstd102humanPathogenic GRCh37 chr11: 193,146-12,643,136 , GRCh38.p12 chr11: 193,146-12,621,589 KRTAP5-3, OR56A7P, 457 more genes
    nsv3919565copy number variation1nstd102humanPathogenic GRCh38 chr11: 61,793-10,727,969 , GRCh37 chr11: 61,793-10,749,516 , NCBI36 chr11: 51,793-10,706,092 OR51A7, OR51F5P, 437 more genes
    nsv3917933insertion1nstd102humanLikely pathogenic GRCh37 chr11: 6,413,072-6,413,072 , GRCh38 chr11: 6,391,842-6,391,842 SMPD1
    nsv3915725copy number variation1nstd102humanPathogenic NCBI36 chr11: 6,239,388-6,615,806 , GRCh38 chr11: 6,261,582-6,637,999 , GRCh37 chr11: 6,282,812-6,659,230 TRIM3, LOC101927825, 14 more genes
    nsv3912558copy number variation1nstd102humanPathogenic GRCh37 chr11: 446,754-18,926,289 , GRCh38 chr11: 446,754-18,904,742 , NCBI36 chr11: 436,754-18,882,865 TRIM22, CSNK2A3, 546 more genes
    nsv3912381copy number variation1nstd102humanUncertain significance NCBI36 chr11: 5,571,015-6,424,808 , GRCh37 chr11: 5,614,439-6,468,232 , GRCh38 chr11: 5,593,209-6,447,002 OR52E6, TRIM34, 46 more genes
    nsv3908873copy number variation2nstd102humanPathogenic GRCh37 chr11: 230,616-134,938,470 , GRCh38.p12 chr11: 230,616-135,068,576 IGHMBP2, SYTL2, 2829 more genes
    nsv3906221copy number variation1nstd102humanPathogenic GRCh37 chr11: 230,615-31,995,219 , GRCh38.p12 chr11: 230,615-31,973,673 PCNAP4, LIN7C, 688 more genes
    nsv3900144copy number variation1nstd102humanPathogenic GRCh37 chr11: 198,510-134,934,063 , GRCh38.p12 chr11: 198,510-135,064,169 RTN3, KRTAP5-13P, 2833 more genes
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