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Items: 1 to 20 of 122

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5951207insertion1nstd209human GRCh38 chr2: 202,291,968-202,291,968 , GRCh37.p13 chr2: 203,156,691-203,156,691 NOP58, SNORD11
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5440681copy number variation1nstd206human GRCh38 chr2: 202,291,002-202,291,621 , GRCh37.p13 chr2: 203,155,725-203,156,344 NOP58, SNORD11, 1 more genes
    nsv4916322copy number variation1nstd200human GRCh38 chr2: 202,291,546-202,292,536 , GRCh37.p13 chr2: 203,156,269-203,157,259 SNORD11B, SNORD11, 1 more genes
    nsv4913832copy number variation1nstd200human GRCh38 chr2: 202,254,586-202,306,708 , GRCh37.p13 chr2: 203,119,309-203,171,431 SNORD11, SNORD11B, 3 more genes
    nsv4795558copy number variation1nstd200human GRCh37 chr2: 203,156,269-203,157,259 , GRCh38.p12 chr2: 202,291,546-202,292,536 SNORD11, SNORD11B, 1 more genes
    nsv4728725copy number variation1nstd102humanPathogenic GRCh37 chr2: 178,397,959-243,007,457 , GRCh38.p12 chr2: 177,533,231-242,065,306 LOC105376755, FZD7, 1013 more genes
    nsv4674597copy number variation1nstd102humanPathogenic GRCh37 chr2: 201,106,432-204,901,548 , GRCh38.p12 chr2: 200,241,709-204,036,825 KIAA2012-AS1, SNORD11, 113 more genes
    nsv4674491copy number variation1nstd102humanPathogenic GRCh37 chr2: 202,772,963-205,218,660 , GRCh38.p12 chr2: 201,908,240-204,353,937 LOC100287425, WDR12, 55 more genes
    nsv4674383copy number variation1nstd102humanPathogenic GRCh37 chr2: 163,233,162-211,927,188 , GRCh38.p12 chr2: 162,376,652-211,062,464 SNORA41, LOC101929633, 663 more genes
    nsv4674277copy number variation1nstd102humanPathogenic GRCh37 chr2: 203,137,870-203,296,088 , GRCh38.p12 chr2: 202,273,147-202,431,365 BMPR2, NOP58, 7 more genes
    nsv4674188copy number variation1nstd102humanLikely pathogenic GRCh37 chr2: 202,999,402-203,485,750 , GRCh38.p12 chr2: 202,134,679-202,621,027 BMPR2, SUMO1, 22 more genes
    nsv4436532copy number variation1nstd102humanPathogenic GRCh37 chr2: 188,926,928-225,298,653 , GRCh38.p12 chr2: 188,062,201-224,433,936 MARS2, KRT18P19, 575 more genes
    nsv4316119inversion1nstd166human GRCh37.p13 chr2: 187,130,612-218,396,189 , GRCh38.p12 chr2: 186,265,885-217,531,466 , ACADL, 453 more genes
    nsv4090070copy number variation1nstd166human GRCh37.p13 chr2: 203,148,052-203,161,524 , GRCh38.p12 chr2: 202,283,329-202,296,801 NOP58, SNORD11, 1 more genes
    nsv4085357copy number variation1nstd166human GRCh37.p13 chr2: 203,156,269-203,157,259 , GRCh38.p12 chr2: 202,291,546-202,292,536 SNORD11B, SNORD11, 1 more genes
    nsv4081332copy number variation1nstd166human GRCh37.p13 chr2: 203,157,599-203,181,249 , GRCh38.p12 chr2: 202,292,876-202,316,526 NOP58, SNORD11
    nsv3924199copy number variation1nstd102humanUncertain significance NCBI36 chr2: 130,861,065-242,751,149 , GRCh37.p13 chr2: 131,144,595-243,102,476 , GRCh38.p12 chr2: 130,387,022-242,160,331 METAP1D, UBE2E3-DT, 1635 more genes
    nsv3923963copy number variation1nstd102humanUncertain significance NCBI36 chr2: 110,190,938-242,751,149 , GRCh37.p13 chr2: 110,833,649-243,102,476 , GRCh38.p12 chr2: 110,076,072-242,160,331 NMTRQ-TTG9-1, MIR6810, 1944 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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