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Items: 1 to 20 of 135

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7098844copy number variation1nstd102humanUncertain significance GRCh37 chr2: 65,296,579-71,305,638 , GRCh38.p12 chr2: 65,069,445-71,078,508 SNRNP27, TEX261, 121 more genes
    nsv7096902copy number variation3nstd102humanPathogenic GRCh37 chr2: 71,004,499-74,779,761 , GRCh38.p12 chr2: 70,777,367-74,552,634 TAF13P2, LOC107985897, 100 more genes
    nsv7096520copy number variation1nstd102humanUncertain significance GRCh37 chr2: 69,240,632-74,779,761 , GRCh38.p12 chr2: 69,013,500-74,552,634 LOC112268419, DQX1, 140 more genes
    nsv7058023inversion1nstd229human GRCh38 chr2: 70,984,842-71,331,695 , GRCh37.p13 chr2: 71,260,430-71,558,825 TRE-CTC15-1, MCEE, 11 more genes
    nsv7043199inversion1nstd229human GRCh38 chr2: 70,623,217-71,162,741 , GRCh37.p13 chr2|NW_004504299.1: 189,499-599,580 , GRCh37.p13 chr2: 70,850,349-71,260,429 LOC105374796, MCEE, 22 more genes
    nsv6674785copy number variation1nstd229human GRCh38 chr2: 70,947,998-71,099,597 , GRCh37.p13 chr2|NW_004504299.1: 514,279-599,580 , GRCh37.p13 chr2: 71,175,128-71,260,429 LOC105374795, ATP6V1B1-AS1, 11 more genes
    nsv6668054copy number variation1nstd229human GRCh38 chr2: 71,045,502-71,045,939 , GRCh37.p13 chr2: 71,272,632-71,273,069 TRE-CTC15-1
    nsv6665023copy number variation1nstd229human GRCh38 chr2: 70,974,401-71,107,500 , GRCh37.p13 chr2: 71,260,430-71,334,630 TRE-CTC15-1, LOC105374796, 7 more genes
    nsv6662898copy number variation1nstd229human GRCh38 chr2: 71,016,610-71,048,077 , GRCh37.p13 chr2|NW_004504299.1: 582,891-599,580 , GRCh37.p13 chr2: 71,243,740-71,260,429 TRE-CTC15-1, OR7E91P, 1 more genes
    nsv6634330copy number variation1nstd102humanPathogenic GRCh37 chr2: 11,504,318-111,365,996 , GRCh38.p12 chr2: 11,364,192-110,608,419 CYP1B1-AS1, LOC107985771, 1649 more genes
    nsv6540618inversion1nstd223human GRCh38 chr2: 70,984,841-71,331,694 , GRCh37.p13 chr2: 71,260,430-71,558,824 ANKRD53, OR7E62P, 11 more genes
    nsv6345880copy number variation1nstd223human GRCh38 chr2: 71,045,502-71,045,939 , GRCh37.p13 chr2: 71,272,632-71,273,069 TRE-CTC15-1
    nsv6339223copy number variation1nstd223human GRCh38 chr2: 71,023,955-71,050,089 , GRCh37.p13 chr2: 71,260,430-71,277,219 OR7E46P, TRE-CTC15-1, 1 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 more genes
    nsv6315247copy number variation1nstd102humanUncertain significance GRCh38 chr2: 69,512,973-71,153,026 , GRCh37.p13 chr2: 69,740,105-71,380,156 TIA1, SNRPG, 52 more genes
    nsv6314726copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 40,607,042-146,902,764 , GRCh38.p12 chr2: 40,379,902-146,145,196 ACTG2, ACYP2, 1713 more genes
    nsv6134545copy number variation2nstd213human GRCh37 chr2: 47,990,000-75,070,001 , GRCh38.p12 chr2: 47,762,861-74,842,874 ACTG2, ACYP2, 438 more genes
    nsv6134457copy number variation1nstd213human GRCh37 chr2: 38,410,000-75,540,001 , GRCh38.p12 chr2: 38,182,858-75,312,875 , ACTG2, 598 more genes
    nsv5989777copy number variation1nstd212human GRCh38 chr2: 71,045,502-71,045,939 , GRCh37.p13 chr2: 71,272,632-71,273,069 TRE-CTC15-1
    nsv5886347copy number variation1nstd209human GRCh38 chr2: 71,045,502-71,045,938 , GRCh37.p13 chr2: 71,272,632-71,273,068 TRE-CTC15-1
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