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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
    nsv5880056copy number variation1nstd209human GRCh38 chr1: 111,195,040-111,530,461 , GRCh37.p13 chr1: 111,737,662-112,073,083 , PGBP, 17 more genes
    nsv5827917copy number variation1nstd209human GRCh38 chr1: 111,196,341-111,215,626 , GRCh37.p13 chr1: 111,738,963-111,758,248 , DENND2D
    nsv5827709copy number variation2nstd209human GRCh38 chr1: 111,200,966-111,202,065 , GRCh37.p13 chr1: 111,743,588-111,744,687 , DENND2D
    nsv5381203copy number variation1nstd102humanUncertain significance GRCh37 chr1: 111,506,243-111,745,058 , GRCh38.p12 chr1: 110,963,621-111,202,436 DENND2D, CCNT2P1, 4 more genes
    nsv5381058copy number variation1nstd102humanPathogenic GRCh37 chr1: 102,021,465-119,737,478 , GRCh38.p12 chr1: 101,555,909-119,194,855 AMYP1, MIR4256, 320 more genes
    nsv4894411copy number variation1nstd200human GRCh38 chr1: 111,029,878-111,315,948 , GRCh37.p13 chr1: 111,572,500-111,858,570 , DENND2D, 7 more genes
    nsv4781119copy number variation1nstd200human GRCh37 chr1: 111,572,500-111,858,570 , GRCh38.p12 chr1: 111,029,878-111,315,948 , CEPT1, 7 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4745469copy number variation1nstd199human GRCh37 chr1: 86,005,697-146,486,085 , GRCh38.p12 chr1: 85,540,014-149,528,945 , TAF13, 920 more genes
    nsv4454547copy number variation1nstd102humanPathogenic GRCh37 chr1: 110,994,179-112,360,446 , GRCh38.p12 chr1: 110,451,557-111,817,824 CCNT2P1, PROK1, 44 more genes
    nsv4330538inversion1nstd166human GRCh37.p13 chr1: 94,223,082-113,632,613 , GRCh38.p12 chr1: 93,757,526-113,089,991 , AMPD2, 329 more genes
    nsv4070193copy number variation1nstd166human GRCh37.p13 chr1: 111,729,751-111,729,804 , GRCh38.p12 chr1: 111,187,129-111,187,182 DENND2D
    nsv3965445copy number variation1nstd168human GRCh38 chr1: 111,119,660-111,197,083 , GRCh37.p13 chr1: 111,662,282-111,739,705 CEPT1, DENND2D, 1 more genes
    nsv3920130copy number variation1nstd102humanPathogenic NCBI36 chr1: 103,429,843-112,252,782 , GRCh37.p13 chr1: 103,657,255-112,451,259 , GRCh38.p12 chr1: 103,191,699-111,908,637 LOC105378898, LOC105378901, 166 more genes
    nsv3901806copy number variation1nstd102humanPathogenic NCBI36 chr1: 105,812,437-112,534,771 , GRCh38 chr1: 105,468,292-112,190,626 , GRCh37 chr1: 106,010,914-112,733,248 LOC126987, VAV3-AS1, 151 more genes
    nsv3901500copy number variation1nstd102humanPathogenic NCBI36 chr1: 101,856,241-112,047,173 , GRCh38 chr1: 101,618,097-111,703,028 , GRCh37 chr1: 102,083,653-112,245,650 CHIAP1, LOC105378888, 171 more genes
    nsv3898188copy number variation1nstd102humanPathogenic NCBI36 chr1: 110,100,775-118,994,350 , GRCh38 chr1: 109,756,630-118,650,204 , GRCh37 chr1: 110,299,252-119,192,827 AP4B1-AS1, HNRNPA1P43, 198 more genes
    nsv3890331copy number variation1nstd102humanPathogenic NCBI36 chr1: 104,669,629-120,321,801 , GRCh37 chr1: 104,868,106-120,471,049 , GRCh38 chr1: 104,325,484-119,977,655 OR11I1P, NHLH2, 324 more genes
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