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Items: 1 to 20 of 134

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6677100copy number variation1nstd229human GRCh38 chr2: 64,826,401-64,868,400 , GRCh37.p13 chr2: 65,053,535-65,095,534 LINC01800
    nsv6670069copy number variation1nstd229human GRCh38 chr2: 64,850,601-64,858,800 , GRCh37.p13 chr2: 65,077,735-65,085,934 LINC01800
    nsv6661490copy number variation1nstd229human GRCh38 chr2: 64,210,609-64,960,847 , GRCh37.p13 chr2: 64,437,743-65,187,981 RN7SL211P, RNU6-100P, 23 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
    nsv6551094inversion1nstd223human GRCh38 chr2: 64,078,330-67,334,177 , GRCh37.p13 chr2: 64,305,464-67,561,309 LINC01805, LINC02579, 59 more genes
    nsv6315390copy number variation1nstd102humanPathogenic GRCh37 chr2: 1-243,199,373 , GRCh38.p12 chr2: 10,001-242,157,305 LOC112268439, RNA5SP116, 3737 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
    nsv5989750copy number variation1nstd212human GRCh38 chr2: 64,510,937-64,911,807 , GRCh37.p13 chr2: 64,738,071-65,138,941 , MIR4434, 14 more genes
    nsv5974385inversion1nstd209human GRCh38 chr2: 64,078,330-67,334,176 , GRCh37.p13 chr2: 64,305,464-67,561,308 , MEIS1, 63 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
    nsv5076762mobile element insertion1nstd203human GRCh38 chr2: 64,862,061-64,862,077 , GRCh37.p13 chr2: 65,089,195-65,089,211 LINC01800
    nsv4901614copy number variation1nstd200human GRCh38 chr2: 64,854,408-64,855,840 , GRCh37.p13 chr2: 65,081,542-65,082,974 LINC01800
    nsv4453429copy number variation1nstd102humanPathogenic GRCh37 chr2: 63,536,353-65,793,944 , GRCh38.p12 chr2: 63,309,218-65,566,810 RPS4XP5, RNU6-548P, 48 more genes
    nsv4069851copy number variation1nstd166human GRCh37.p13 chr2: 64,437,744-65,187,981 , GRCh38.p12 chr2: 64,210,610-64,960,847 , SERTAD2, 26 more genes
    nsv4054365copy number variation1nstd166human GRCh37.p13 chr2: 65,077,756-65,085,962 , GRCh38.p12 chr2: 64,850,622-64,858,828 LINC01800
    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
    nsv3912946copy number variation1nstd102humanPathogenic NCBI36 chr2: 63,500,157-66,199,275 , GRCh37.p13 chr2: 63,646,653-66,345,771 , GRCh38.p12 chr2: 63,419,518-66,118,638 CSP1, LINC01805, 52 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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