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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
    nsv5322042copy number variation1nstd204human GRCh38.p13 chr22: 30,473,742-30,506,313 , GRCh37.p13 chr22: 30,869,729-30,902,300 SDC4P, LOC107985579, 1 more genes
    nsv5289443copy number variation1nstd204human GRCh38.p13 chr22: 30,473,237-30,495,349 , GRCh37.p13 chr22: 30,869,224-30,891,336 SDC4P, LOC107985579, 1 more genes
    nsv5038542copy number variation1nstd200human GRCh38 chr22: 30,471,041-30,497,065 , GRCh37.p13 chr22: 30,867,028-30,893,052 SDC4P, SEC14L3, 2 more genes
    nsv5033071copy number variation1nstd200human GRCh38 chr22: 30,493,574-30,499,800 , GRCh37.p13 chr22: 30,889,561-30,895,787 SEC14L4
    nsv4879663copy number variation1nstd200human GRCh37 chr22: 30,889,561-30,895,787 , GRCh38.p12 chr22: 30,493,574-30,499,800 SEC14L4
    nsv4729926copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,197,005-51,224,252 , GRCh38.p12 chr22: 16,367,190-50,785,824 FBXO7, GTSE1, 1084 more genes
    nsv4676292copy number variation1nstd102humanPathogenic GRCh37 chr22: 30,654,764-51,197,838 , GRCh38.p12 chr22: 30,258,775-50,759,410 PDXP-DT, PDGFB, 550 more genes
    nsv4623806copy number variation1nstd183human GRCh37 chr22: 30,889,996-30,891,940 , GRCh38.p12 chr22: 30,494,009-30,495,953 SEC14L4
    nsv4619730copy number variation1nstd183human GRCh37 chr22: 30,888,412-30,919,129 , GRCh38.p12 chr22: 30,492,425-30,523,142 SEC14L4, SEC14L6
    nsv4572224insertion1nstd166human GRCh37.p13 chr22: 30,897,831-30,897,831 , GRCh38.p12 chr22: 30,501,844-30,501,844 SEC14L4
    nsv4457771copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,888,899-51,197,838 , GRCh38.p12 chr22: 16,408,173-50,759,410 IGLV3-27, XKR3, 1082 more genes
    nsv4436827inversion1nstd102humanLikely pathogenic GRCh38.p12 chr22: 29,288,727-31,344,669 , GRCh37 chr22: 29,684,716-31,740,655 AP1B1, EWSR1, 81 more genes
    nsv4388401copy number variation3nstd173human GRCh37 chr22: 30,868,102-30,893,738 , GRCh38.p12 chr22: 30,472,115-30,497,751 SEC14L4, LOC107985579, 2 more genes
    nsv4383389copy number variation1nstd173human GRCh37 chr22: 21,465,662-33,984,045 , GRCh38.p12 chr22: 21,111,373-33,588,059 , XBP1, 450 more genes
    nsv4380083copy number variation1nstd173human GRCh37 chr22: 30,866,549-30,893,738 , GRCh38.p12 chr22: 30,470,562-30,497,751 SDC4P, LOC107985579, 2 more genes
    nsv4287990copy number variation1nstd166human GRCh37.p13 chr22: 30,667,005-30,900,811 , GRCh38.p12 chr22: 30,271,016-30,504,824 , SEC14L3, 15 more genes
    nsv4277744copy number variation1nstd166human GRCh37.p13 chr22: 30,889,519-30,895,787 , GRCh38.p12 chr22: 30,493,532-30,499,800 SEC14L4
    nsv3970214insertion1nstd168human GRCh38 chr22: 30,490,297-30,519,837 , GRCh37.p13 chr22: 30,886,284-30,915,824 SEC14L4
    nsv3958024insertion1nstd168human GRCh38 chr22: 30,452,692-30,489,685 , GRCh37.p13 chr22: 30,848,679-30,885,672 SEC14L3, SEC14L4, 3 more genes
    nsv3923324copy number variation1nstd102humanUncertain significance NCBI36 chr22: 29,038,245-29,676,302 , GRCh37 chr22: 30,708,245-31,346,302 , GRCh38 chr22: 30,312,256-30,950,316 SLC35E4, OSBP2, 28 more genes
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