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Items: 1 to 20 of 118

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5956668insertion1nstd209human GRCh38 chr2: 70,286,423-70,286,423 , GRCh37.p13 chr2: 70,513,555-70,513,555 SNRPG
    nsv5691180mobile element insertion2nstd211human GRCh38 chr2: 70,286,436-70,286,436 , GRCh37.p13 chr2: 70,513,568-70,513,568 SNRPG
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5435062copy number variation1nstd206human GRCh38 chr2: 70,294,000-70,294,634 , GRCh37.p13 chr2: 70,521,132-70,521,766 SNRPG, FAM136A
    nsv5406492mobile element insertion1nstd206human GRCh38 chr2: 70,286,436-70,286,487 , GRCh37.p13 chr2: 70,513,568-70,513,619 SNRPG
    nsv5281127copy number variation1nstd204human GRCh38.p13 chr2: 70,293,725-70,294,951 , GRCh37.p13 chr2: 70,520,857-70,522,083 FAM136A, SNRPG
    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
    nsv5076538mobile element insertion1nstd203human GRCh38 chr2: 70,286,423-70,286,436 , GRCh37.p13 chr2: 70,513,555-70,513,568 SNRPG
    nsv5072203mobile element insertion1nstd203human GRCh38 chr2: 70,286,422-70,286,436 , GRCh37.p13 chr2: 70,513,554-70,513,568 SNRPG
    nsv5064235mobile element insertion1nstd203human GRCh38 chr2: 70,283,096-70,283,124 , GRCh37.p13 chr2: 70,510,228-70,510,256 SNRPG
    nsv4726258insertion1nstd186human GRCh37 chr2: 70,513,555-70,513,555 , GRCh38.p12 chr2: 70,286,423-70,286,423 SNRPG
    nsv4595743copy number variation1nstd183human GRCh37 chr2: 70,502,837-70,508,507 , GRCh38.p12 chr2: 70,275,705-70,281,375 SNRPG, PCYOX1
    nsv4584382copy number variation1nstd183human GRCh37 chr2: 70,515,304-70,522,943 , GRCh38.p12 chr2: 70,288,172-70,295,811 SNRPG, FAM136A
    nsv4537424insertion1nstd166human GRCh37.p13 chr2: 70,513,555-70,513,555 , GRCh38.p12 chr2: 70,286,423-70,286,423 SNRPG
    nsv4066366copy number variation1nstd166human GRCh37.p13 chr2: 70,513,331-70,513,434 , GRCh38.p12 chr2: 70,286,199-70,286,302 SNRPG
    nsv4060274copy number variation1nstd166human GRCh37.p13 chr2: 70,519,000-70,524,000 , GRCh38.p12 chr2: 70,291,868-70,296,868 SNRPG, FAM136A
    nsv4058281copy number variation1nstd166human GRCh37.p13 chr2: 70,521,092-70,521,767 , GRCh38.p12 chr2: 70,293,960-70,294,635 FAM136A, SNRPG
    nsv3916821copy number variation1nstd102humanPathogenic NCBI36 chr2: 47,701,031-86,783,356 , GRCh37.p13 chr2: 47,847,527-86,929,845 , GRCh38.p12 chr2: 47,620,388-86,702,722 NAGK, NRXN1-DT, 595 more genes
    nsv3912390copy number variation1nstd102humanUncertain significance NCBI36 chr2: 70,341,951-70,496,769 , GRCh37.p13 chr2: 70,488,447-70,643,265 , GRCh38.p12 chr2: 70,261,315-70,416,133 FAM136A, PCYOX1, 2 more genes
    nsv3910630copy number variation1nstd102humanPathogenic NCBI36 chr2: 50,739,936-242,751,149 , GRCh37.p13 chr2: 50,886,432-243,102,476 , GRCh38.p12 chr2: 50,659,294-242,160,331 DAZAP2P1, RPL36AP16, 2991 more genes
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