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Items: 1 to 20 of 179

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5907474copy number variation1nstd209human GRCh38 chr2: 199,951,704-199,951,784 , GRCh37.p13 chr2: 200,816,427-200,816,507 TYW5
    nsv5560580sequence alteration1nstd206human GRCh38 chr2: 151,447,581-231,256,535 , GRCh37.p13 chr2: 152,304,095-232,121,248 , ATIC, 1163 more genes
    nsv5558329sequence alteration1nstd206human GRCh38 chr2: 199,944,381-199,944,411 , GRCh37.p13 chr2: 200,809,104-200,809,134 TYW5
    nsv5439606copy number variation1nstd206human GRCh38 chr2: 199,951,705-199,951,785 , GRCh37.p13 chr2: 200,816,428-200,816,508 TYW5
    nsv4768322copy number variation1nstd102humanPathogenic GRCh37 chr2: 197,359,024-201,383,462 , GRCh38.p12 chr2: 196,494,300-200,518,739 ANKRD44-DT, ATP5MC2P3, 48 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
    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
    nsv4450023copy number variation1nstd102humanPathogenic GRCh37 chr2: 198,852,970-201,350,417 , GRCh38.p12 chr2: 197,988,246-200,485,694 RNY4P34, LINC01923, 18 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
    nsv4274284insertion1nstd166human GRCh37.p13 chr2: 200,802,231-200,802,231 , GRCh38.p12 chr2: 199,937,508-199,937,508 TYW5
    nsv4083289copy number variation1nstd166human GRCh37.p13 chr2: 200,816,428-200,816,508 , GRCh38.p12 chr2: 199,951,705-199,951,785 TYW5
    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
    nsv3923866copy number variation1nstd102humanLikely pathogenic NCBI36 chr2: 195,941,520-200,787,299 , GRCh37.p13 chr2: 196,233,275-201,079,054 , GRCh38.p12 chr2: 195,368,551-200,214,331 HSPD1, HSPE1, 60 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
    nsv3908231copy number variation1nstd102humanPathogenic NCBI36 chr2: 196,233,563-204,542,456 , GRCh38 chr2: 195,660,594-203,969,488 , GRCh37 chr2: 196,525,318-204,834,211 LINC01877, MAIP1, 170 more genes
    nsv3908112copy number variation1nstd102humanPathogenic GRCh38 chr2: 190,310,736-241,892,770 , NCBI36 chr2: 190,883,707-242,483,594 , GRCh37 chr2: 191,175,462-242,834,921 LOC101928084, ECEL1P1, 871 more genes
    nsv3903696copy number variation1nstd102humanPathogenic NCBI36 chr2: 200,510,241-210,604,893 , GRCh37 chr2: 200,801,996-210,896,648 , GRCh38 chr2: 199,937,273-210,031,924 MTND4P23, BICD1P1, 206 more genes
    nsv3902143copy number variation1nstd102humanPathogenic GRCh38 chr2: 180,513,793-224,302,848 , NCBI36 chr2: 181,086,765-224,875,809 , GRCh37 chr2: 181,378,520-225,167,565 LINC00607, ABCA12, 644 more genes
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