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Items: 1 to 20 of 144

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5973346inversion1nstd209human GRCh38 chr12: 118,054,601-123,705,841 , GRCh37.p13 chr12: 118,492,406-124,190,388 , ACADS, 162 more genes
    nsv5930973copy number variation1nstd209human GRCh38 chr12: 123,593,569-123,595,694 , GRCh37.p13 chr12: 124,078,116-124,080,241 TMED2
    nsv5864495copy number variation2nstd209human GRCh38 chr12: 123,593,899-123,596,037 , GRCh37.p13 chr12: 124,078,446-124,080,584 TMED2
    nsv5864019copy number variation1nstd209human GRCh38 chr12: 123,593,599-123,595,737 , GRCh37.p13 chr12: 124,078,146-124,080,284 TMED2
    nsv5703380mobile element insertion1nstd211human GRCh38 chr12: 123,596,258-123,596,258 , GRCh37.p13 chr12: 124,080,805-124,080,805 TMED2
    nsv5381782copy number variation1nstd102humanPathogenic GRCh37 chr12: 123,878,845-126,829,341 , GRCh38.p12 chr12: 123,394,298-126,344,795 DDX55, ZNF664, 55 more genes
    nsv5274976copy number variation1nstd204human GRCh38.p13 chr12: 123,116,301-123,767,100 , GRCh37.p13 chr12: 123,600,848-124,251,647 SNRNP35, KMT5A, 25 more genes
    nsv5187184mobile element insertion1nstd203human GRCh38 chr12: 123,587,395-123,587,410 , GRCh37.p13 chr12: 124,071,942-124,071,957 TMED2
    nsv4996188copy number variation1nstd200human GRCh38 chr12: 123,593,635-123,595,685 , GRCh37.p13 chr12: 124,078,182-124,080,232 TMED2
    nsv4841465copy number variation1nstd200human GRCh37 chr12: 124,075,324-124,076,156 , GRCh38.p12 chr12: 123,590,777-123,591,609 TMED2
    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
    nsv4729050copy number variation1nstd102humanUncertain significance GRCh37 chr12: 123,807,132-124,299,781 , GRCh38.p12 chr12: 123,322,585-123,815,234 RILPL1, LOC105370041, 20 more genes
    nsv4617911copy number variation1nstd183human GRCh37 chr12: 123,799,974-124,107,015 , GRCh38.p12 chr12: 123,315,427-123,622,468 MIR3908, RILPL1, 13 more genes
    nsv4611597copy number variation1nstd183human GRCh37 chr12: 124,082,554-124,110,369 , GRCh38.p12 chr12: 123,598,007-123,625,822 EIF2B1, DDX55, 3 more genes
    nsv4607408copy number variation1nstd183human GRCh37 chr12: 123,981,630-124,083,898 , GRCh38.p12 chr12: 123,497,083-123,599,351 TMED2, RILPL1, 2 more genes
    nsv4604373copy number variation1nstd183human GRCh37 chr12: 124,056,116-124,127,264 , GRCh38.p12 chr12: 123,571,569-123,642,717 EIF2B1, GTF2H3, 5 more genes
    nsv4455692copy number variation1nstd102humanPathogenic GRCh37 chr12: 122,169,403-129,084,163 , GRCh38.p12 chr12: 121,731,497-128,599,618 LOC107987176, LRRC43, 147 more genes
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