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Items: 1 to 20 of 157

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5943772copy number variation1nstd209human GRCh38 chr12: 116,720,446-116,737,787 , GRCh37.p13 chr12: 117,158,251-117,175,592 RNFT2, SPRING1
    nsv5933320copy number variation1nstd209human GRCh38 chr12: 116,719,876-116,720,294 , GRCh37.p13 chr12: 117,157,681-117,158,099 SPRING1
    nsv5929918copy number variation1nstd209human GRCh38 chr12: 116,733,355-116,733,463 , GRCh37.p13 chr12: 117,171,160-117,171,268 SPRING1
    nsv5929160copy number variation1nstd209human GRCh38 chr12: 116,717,893-116,719,761 , GRCh37.p13 chr12: 117,155,698-117,157,566 SPRING1
    nsv5848218copy number variation1nstd209human GRCh38 chr12: 116,714,277-116,717,376 , GRCh37.p13 chr12: 117,152,082-117,155,181 SPRING1
    nsv5662262insertion1nstd207human GRCh38 chr12: 116,733,346-116,733,346 , GRCh37.p13 chr12: 117,171,151-117,171,151 SPRING1
    nsv5363388translocation1nstd200human GRCh38 chr12: 116,738,040-116,738,040 , GRCh38 chr6: 130,121,805-130,121,805 , GRCh37.p13 chr12: 117,175,845-117,175,845 , GRCh37.p13 chr6: 130,442,950-130,442,950 , SPRING1, 2 more genes
    nsv5356430translocation1nstd200human GRCh38 chr12: 116,720,450-116,720,450 , GRCh38 chr12: 116,737,788-116,737,788 , GRCh37.p13 chr12: 117,175,593-117,175,593 , GRCh37.p13 chr12: 117,158,255-117,158,255 SPRING1, RNFT2
    nsv5356429translocation1nstd200human GRCh38 chr12: 116,717,896-116,717,896 , GRCh38 chr12: 116,719,762-116,719,762 , GRCh37.p13 chr12: 117,155,701-117,155,701 , GRCh37.p13 chr12: 117,157,567-117,157,567 SPRING1
    nsv5136306mobile element insertion1nstd203human GRCh38 chr12: 116,733,346-116,733,355 , GRCh37.p13 chr12: 117,171,151-117,171,160 SPRING1
    nsv5135568mobile element insertion1nstd203human GRCh38 chr12: 116,722,155-116,722,171 , GRCh37.p13 chr12: 117,159,960-117,159,976 SPRING1
    nsv5133534mobile element insertion1nstd203human GRCh38 chr12: 116,733,349-116,733,355 , GRCh37.p13 chr12: 117,171,154-117,171,160 SPRING1
    nsv5132656mobile element insertion1nstd203human GRCh38 chr12: 116,733,355-116,733,404 , GRCh37.p13 chr12: 117,171,160-117,171,209 SPRING1
    nsv4995823copy number variation1nstd200human GRCh38 chr12: 116,726,375-116,730,199 , GRCh37.p13 chr12: 117,164,180-117,168,004 SPRING1
    nsv4993722copy number variation1nstd200human GRCh38 chr12: 116,732,304-116,795,171 , GRCh37.p13 chr12: 117,170,109-117,232,976 RPL21P105, RNU6-558P, 2 more genes
    nsv4844080copy number variation1nstd200human GRCh37 chr12: 117,164,181-117,168,004 , GRCh38.p12 chr12: 116,726,376-116,730,199 SPRING1
    nsv4756208inversion1nstd199human GRCh37 chr12: 104,359,633-125,801,147 , GRCh38.p12 chr12: 103,965,855-125,316,601 , ACACB, 453 more genes
    nsv4755205inversion1nstd199human GRCh37 chr12: 25,956,127-125,801,151 , GRCh38.p12 chr12: 25,803,193-125,316,605 , ACACB, 1787 more genes
    nsv4754840inversion1nstd199human GRCh37 chr12: 104,382,539-125,801,164 , GRCh38.p12 chr12: 103,988,761-125,316,618 , ACACB, 452 more genes
    nsv4736781copy number variation1nstd199human GRCh37 chr12: 25,957,322-125,801,148 , GRCh38.p12 chr12: 25,804,388-125,316,602 , RNA5SP368, 1787 more genes
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