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Items: 1 to 20 of 94

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5441396copy number variation1nstd206human GRCh38 chr2: 70,296,693-70,296,806 , GRCh37.p13 chr2: 70,523,825-70,523,938 FAM136A
    nsv5435062copy number variation1nstd206human GRCh38 chr2: 70,294,000-70,294,634 , GRCh37.p13 chr2: 70,521,132-70,521,766 SNRPG, FAM136A
    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
    nsv4908796copy number variation1nstd200human GRCh38 chr2: 70,301,599-70,306,764 , GRCh37.p13 chr2: 70,528,731-70,533,896 FAM136A
    nsv4772372copy number variation1nstd200human GRCh37 chr2: 70,528,731-70,533,896 , GRCh38.p12 chr2: 70,301,599-70,306,764 FAM136A
    nsv4584382copy number variation1nstd183human GRCh37 chr2: 70,515,304-70,522,943 , GRCh38.p12 chr2: 70,288,172-70,295,811 SNRPG, FAM136A
    nsv4065110copy number variation1nstd166human GRCh37.p13 chr2: 70,528,731-70,533,896 , GRCh38.p12 chr2: 70,301,599-70,306,764 FAM136A
    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
    nsv3903805copy number variation1nstd102humanBenign GRCh37 chr2: 7,635,254-88,005,418 , NCBI36 chr2: 7,552,705-87,786,533 , GRCh38 chr2: 7,495,123-87,705,899 LOC101927723, SANBR, 1246 more genes
    nsv3900298copy number variation1nstd102humanPathogenic GRCh37 chr2: 58,506,654-83,814,086 , GRCh38 chr2: 58,279,519-83,586,962 , NCBI36 chr2: 58,360,158-83,667,597 MIR1285-2, SERTAD2, 404 more genes
    nsv3888940copy number variation1nstd102humanBenign GRCh37 chr2: 70,508,379-70,606,777 , GRCh38.p12 chr2: 70,281,247-70,379,645 BRD7P6, PCYOX1, 2 more genes
    nsv3885544copy number variation1nstd102humanPathogenic GRCh37 chr2: 14,238-243,048,760 , GRCh38.p12 chr2: 14,238-242,106,609 RNU6-674P, KANSL3, 3735 more genes
    nsv3883931copy number variation1nstd102humanPathogenic GRCh37 chr2: 63,671,346-85,698,002 , GRCh38.p12 chr2: 63,444,212-85,470,879 LINC01888, RNU7-64P, 367 more genes
    nsv3882615copy number variation2nstd102humanPathogenic GRCh37 chr2: 12,771-242,783,384 , GRCh38.p12 chr2: 12,771-241,841,232 MTND2P22, LOC112268410, 3724 more genes
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