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Items: 1 to 20 of 143

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5909130copy number variation1nstd209human GRCh38 chr11: 18,752,036-18,752,124 , GRCh37.p13 chr11: 18,773,583-18,773,671 PTPN5
    nsv5512699copy number variation1nstd206human GRCh38 chr11: 18,746,486-18,747,398 , GRCh37.p13 chr11: 18,768,033-18,768,945 PTPN5
    nsv5507673copy number variation1nstd206human GRCh38 chr11: 16,359,999-20,627,000 , GRCh37.p13 chr11: 16,381,545-20,648,546 , CSRP3, 102 more genes
    nsv5380796copy number variation1nstd102humanPathogenic GRCh37 chr11: 11,835,569-118,373,112 , GRCh38.p12 chr11: 11,814,022-118,502,397 FAUP4, MMP7, 2031 more genes
    nsv5380720copy number variation1nstd102humanUncertain significance GRCh37 chr11: 17,552,691-19,213,995 , GRCh38.p12 chr11: 17,531,144-19,192,448 USH1C, HIGD1AP5, 53 more genes
    nsv4984244copy number variation1nstd200human GRCh38 chr11: 18,740,137-18,743,752 , GRCh37.p13 chr11: 18,761,684-18,765,299 PTPN5
    nsv4978481copy number variation1nstd200human GRCh38 chr11: 18,726,330-18,726,442 , GRCh37.p13 chr11: 18,747,877-18,747,989 IGSF22, PTPN5
    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
    nsv4680082copy number variation1nstd189human GRCh37.p13 chr11: 18,333,252-18,760,169 , GRCh38.p12 chr11: 18,311,705-18,738,622 , GTF2H1, 18 more genes
    nsv4675502copy number variation1nstd102humanPathogenic GRCh37 chr11: 13,970,757-27,565,888 , GRCh38.p12 chr11: 13,949,210-27,544,341 MRGPRX5P, LDHC, 171 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
    nsv4674824copy number variation1nstd102humanPathogenic GRCh37 chr11: 11,053,978-34,732,891 , GRCh38.p12 chr11: 11,032,431-34,711,344 SNORA88, LINC02729, 305 more genes
    nsv4572635sequence alteration1nstd166human GRCh37.p13 chr11: 18,806,531-18,806,532 , GRCh38.p12 chr11: 18,784,984-18,784,985 PTPN5
    nsv4480794mobile element insertion1nstd166human GRCh37.p13 chr11: 18,770,805-18,770,805 , GRCh38.p12 chr11: 18,749,258-18,749,258 PTPN5
    nsv4208761copy number variation1nstd166human GRCh37.p13 chr11: 18,133,425-18,936,070 , GRCh38.p12 chr11: 18,111,878-18,914,523 , UEVLD, 37 more genes
    nsv3921634copy number variation1nstd102humanUncertain significance NCBI36 chr11: 18,504,345-20,726,247 , GRCh38 chr11: 18,526,222-20,748,125 , GRCh37 chr11: 18,547,769-20,769,671 NELL1, UEVLD, 41 more genes
    nsv3919437copy number variation1nstd102humanPathogenic GRCh37 chr11: 17,926,636-19,696,051 , NCBI36 chr11: 17,883,212-19,652,627 , GRCh38 chr11: 17,905,089-19,674,505 CSRP3-AS1, ZDHHC13, 55 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
    nsv3908873copy number variation2nstd102humanPathogenic GRCh37 chr11: 230,616-134,938,470 , GRCh38.p12 chr11: 230,616-135,068,576 IGHMBP2, SYTL2, 2829 more genes
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