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Items: 1 to 20 of 97

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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
    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
    nsv7052037inversion1nstd229human GRCh38 chr2: 69,732,002-70,868,430 , GRCh37.p13 chr2: 69,959,134-70,660,850 PCYOX1, FAM136A, 30 more genes
    nsv7042226inversion1nstd229human GRCh38 chr2: 69,994,280-70,959,896 , GRCh37.p13 chr2|NW_004504299.1: 1-526,177 , GRCh37.p13 chr2: 70,660,851-71,187,026 PCBP1-AS1, SNRPG, 28 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
    nsv6541830inversion1nstd223human GRCh38 chr2: 69,732,004-70,868,425 , GRCh37.p13 chr2: 69,959,136-70,660,850 LOC105374794, BRD7P6, 30 more genes
    nsv6353235copy number variation1nstd223human GRCh38 chr2: 70,087,201-70,087,900 , GRCh37.p13 chr2: 70,314,333-70,315,032 PCBP1, PCBP1-AS1
    nsv6336134copy number variation1nstd223human GRCh38 chr2: 70,086,101-70,089,500 , GRCh37.p13 chr2: 70,313,233-70,316,632 PCBP1-AS1, PCBP1
    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
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5219807copy number variation1nstd204human GRCh38.p13 chr2: 70,088,047-70,090,940 , GRCh37.p13 chr2: 70,315,179-70,318,072 PCBP1
    nsv5206418copy number variation1nstd204human GRCh38.p13 chr2: 70,058,501-70,325,800 , GRCh37.p13 chr2: 70,285,633-70,552,932 RN7SL470P, PCYOX1, 11 more genes
    nsv4595740copy number variation1nstd183human GRCh37 chr2: 70,310,533-70,362,298 , GRCh38.p12 chr2: 70,083,401-70,135,166 PCBP1, LINC01816, 2 more genes
    nsv4595739copy number variation1nstd183human GRCh37 chr2: 70,309,401-70,374,699 , GRCh38.p12 chr2: 70,082,269-70,147,567 MRPL36P1, PCBP1-AS1, 2 more genes
    nsv4375719copy number variation1nstd173human GRCh37 chr2: 70,195,464-70,355,627 , GRCh38.p12 chr2: 69,968,332-70,128,495 RN7SL470P, MRPL36P1, 3 more genes
    nsv4373698copy number variation1nstd173human GRCh37 chr2: 70,118,427-70,371,558 , GRCh38.p12 chr2: 69,891,295-70,144,426 MXD1, PCBP1, 6 more genes
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