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Items: 1 to 20 of 166

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5933054copy number variation1nstd209human GRCh38 chr12: 51,960,973-51,961,105 , GRCh37.p13 chr12: 52,354,757-52,354,889 ACVR1B
    nsv5591201copy number variation1nstd207human GRCh38 chr12: 51,960,973-51,961,105 , GRCh37.p13 chr12: 52,354,757-52,354,889 ACVR1B
    nsv5508370copy number variation1nstd206human GRCh38 chr12: 51,960,976-51,961,106 , GRCh37.p13 chr12: 52,354,760-52,354,890 ACVR1B
    nsv5390585copy number variation2nstd186human GRCh37 chr12: 52,354,760-52,354,890 , GRCh38.p12 chr12: 51,960,976-51,961,106 ACVR1B
    nsv5312964copy number variation1nstd204human GRCh38.p13 chr12: 51,960,976-51,961,106 , GRCh37.p13 chr12: 52,354,760-52,354,890 ACVR1B
    nsv5136454mobile element insertion1nstd203human GRCh38 chr12: 51,978,208-51,978,221 , GRCh37.p13 chr12: 52,371,992-52,372,005 ACVR1B
    nsv5121805mobile element insertion1nstd203human GRCh38 chr12: 51,995,527-51,995,542 , GRCh37.p13 chr12: 52,389,311-52,389,326 ACVR1B
    nsv5040224inversion1nstd200human GRCh38 chr12: 47,213,128-71,357,206 , GRCh37.p13 chr12: 47,606,911-71,750,986 , NR4A1, 686 more genes
    nsv4985596copy number variation1nstd200human GRCh38 chr12: 51,871,541-51,980,011 , GRCh37.p13 chr12: 52,265,325-52,373,795 ANKRD33, LOC102724178, 2 more genes
    nsv4972690copy number variation1nstd200human GRCh38 chr12: 51,962,822-51,965,010 , GRCh37.p13 chr12: 52,356,606-52,358,794 ACVR1B
    nsv4972689copy number variation1nstd200human GRCh38 chr12: 51,960,976-51,961,106 , GRCh37.p13 chr12: 52,354,760-52,354,890 ACVR1B
    nsv4842423copy number variation1nstd200human GRCh37 chr12: 52,354,760-52,354,890 , GRCh38.p12 chr12: 51,960,976-51,961,106 ACVR1B
    nsv4838931copy number variation1nstd200human GRCh37 chr12: 52,362,863-52,363,079 , GRCh38.p12 chr12: 51,969,079-51,969,295 ACVR1B
    nsv4755205inversion1nstd199human GRCh37 chr12: 25,956,127-125,801,151 , GRCh38.p12 chr12: 25,803,193-125,316,605 , ACACB, 1787 more genes
    nsv4741084copy number variation1nstd199human GRCh37 chr12: 52,354,758-52,354,891 , GRCh38.p12 chr12: 51,960,974-51,961,107 ACVR1B
    nsv4736781copy number variation1nstd199human GRCh37 chr12: 25,957,322-125,801,148 , GRCh38.p12 chr12: 25,804,388-125,316,602 , RNA5SP368, 1787 more genes
    nsv4684143copy number variation1nstd102humanPathogenic GRCh38 chr12: 51,991,357-51,992,013 , GRCh37 chr12: 52,385,141-52,385,797 ACVR1B
    nsv4657561copy number variation1nstd186human GRCh37 chr12: 52,354,514-52,354,890 , GRCh38.p12 chr12: 51,960,730-51,961,106 ACVR1B
    nsv4636941copy number variation1nstd186human GRCh37 chr12: 52,354,758-52,354,890 , GRCh38.p12 chr12: 51,960,974-51,961,106 ACVR1B
    nsv4615473copy number variation1nstd183human GRCh37 chr12: 52,345,522-52,345,578 , GRCh38.p12 chr12: 51,951,738-51,951,794 ACVR1B
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