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Items: 1 to 20 of 163

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5693659mobile element insertion2nstd211human GRCh38 chr2: 62,210,434-62,210,434 , GRCh37.p13 chr2: 62,437,569-62,437,569 B3GNT2
    nsv5692606mobile element insertion2nstd211human GRCh38 chr2: 62,224,349-62,224,349 , GRCh37.p13 chr2: 62,451,484-62,451,484 B3GNT2
    nsv5554214mobile element insertion1nstd206human GRCh38 chr2: 43,826,578-177,947,868 , GRCh37.p13 chr2: 44,053,717-178,812,595 , POLR1B, 2149 more genes
    nsv5400215mobile element insertion1nstd206human GRCh38 chr2: 62,224,349-62,224,400 , GRCh37.p13 chr2: 62,451,484-62,451,535 B3GNT2
    nsv5071034mobile element insertion1nstd203human GRCh38 chr2: 62,210,420-62,210,434 , GRCh37.p13 chr2: 62,437,555-62,437,569 B3GNT2
    nsv4532820insertion1nstd166human GRCh37.p13 chr2: 62,437,555-62,437,555 , GRCh38.p12 chr2: 62,210,420-62,210,420 B3GNT2
    nsv4347155copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 57,445,335-62,733,206 , GRCh38.p12 chr2: 57,218,200-62,506,071 ATP1B3P1, PEX13, 66 more genes
    nsv4066101copy number variation1nstd166human GRCh37.p13 chr2: 62,429,961-62,448,798 , GRCh38.p12 chr2: 62,202,826-62,221,663 B3GNT2, MIR5192
    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
    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
    nsv3904784copy number variation1nstd102humanPathogenic NCBI36 chr2: 58,953,678-64,270,970 , GRCh37 chr2: 59,100,174-64,417,466 , GRCh38 chr2: 58,873,039-64,190,332 UGP2, C2orf74-AS1, 79 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
    nsv3903419copy number variation1nstd102humanUncertain significance GRCh38 chr2: 62,031,155-62,779,065 , NCBI36 chr2: 62,111,794-62,859,704 , GRCh37 chr2: 62,258,290-63,006,200 RPL21P37, MIR5192, 13 more genes
    nsv3903187copy number variation1nstd102humanPathogenic NCBI36 chr2: 58,112,555-63,692,448 , GRCh38 chr2: 58,031,916-63,611,810 , GRCh37 chr2: 58,259,051-63,838,944 RPL31P30, RNU1-32P, 76 more genes
    nsv3902458copy number variation1nstd102humanPathogenic GRCh37 chr2: 59,885,981-62,563,218 , NCBI36 chr2: 59,739,485-62,416,722 , GRCh38 chr2: 59,658,846-62,336,083 MIR4432, PEX13, 48 more genes
    nsv3901838copy number variation1nstd102humanLikely benign GRCh38 chr2: 62,006,650-62,779,065 , NCBI36 chr2: 62,087,289-62,859,704 , GRCh37 chr2: 62,233,785-63,006,200 MIR5192, B3GNT2, 13 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
    nsv3898402copy number variation1nstd102humanPathogenic NCBI36 chr2: 61,596,077-62,386,487 , GRCh38 chr2: 61,515,438-62,305,848 , GRCh37 chr2: 61,742,573-62,532,983 LOC100533678, LOC105374760, 17 more genes
    nsv3892726copy number variation1nstd102humanPathogenic NCBI36 chr2: 56,818,693-62,554,307 , GRCh38 chr2: 56,738,054-62,473,668 , GRCh37 chr2: 56,965,189-62,700,803 RPS29P10, RN7SL51P, 66 more genes
    nsv3886695copy number variation1nstd102humanUncertain significance GRCh37 chr2: 61,576,332-62,775,261 , GRCh38.p12 chr2: 61,349,197-62,548,126 LOC100533678, RPL21P37, 25 more genes
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