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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5832830copy number variation1nstd209human GRCh38 chr2: 240,565,187-240,566,486 , GRCh37.p13 chr2: 241,504,604-241,505,903 RNPEPL1, DUSP28
    nsv5548631insertion1nstd206human GRCh38 chr2: 240,566,585-240,566,616 , GRCh37.p13 chr2: 241,506,002-241,506,033 RNPEPL1
    nsv5447533copy number variation1nstd206human GRCh38 chr2: 240,487,835-240,574,804 , GRCh37.p13 chr2: 241,427,252-241,514,221 DUSP28, RNPEPL1, 1 more genes
    nsv5439365copy number variation1nstd206human GRCh38 chr2: 240,579,810-240,582,295 , GRCh37.p13 chr2: 241,519,227-241,521,712 RNPEPL1, CAPN10-DT
    nsv5381323copy number variation1nstd102humanPathogenic GRCh37 chr2: 237,201,756-243,048,760 , GRCh38.p12 chr2: 236,293,113-242,106,609 LRRFIP1, GPR35, 133 more genes
    nsv5203970copy number variation1nstd204human GRCh38.p13 chr2: 240,580,438-240,581,437 , GRCh37.p13 chr2: 241,519,855-241,520,854 CAPN10-DT, RNPEPL1
    nsv4914149copy number variation1nstd200human GRCh38 chr2: 240,522,069-240,756,640 , GRCh37.p13 chr2: 241,461,486-241,696,057 AQP12A, LOC100420500, 9 more genes
    nsv4914148copy number variation1nstd200human GRCh38 chr2: 240,519,347-240,575,108 , GRCh37.p13 chr2: 241,458,764-241,514,525 ANKMY1, RNPEPL1, 1 more genes
    nsv4768328copy number variation1nstd102humanPathogenic GRCh37 chr2: 233,110,452-243,028,452 , GRCh38.p12 chr2: 232,245,742-242,086,301 LOC107985836, LOC105373980, 217 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
    nsv4684239copy number variation1nstd102humanUncertain significance GRCh37 chr2: 238,863,455-243,048,760 , GRCh38.p12 chr2: 237,954,813-242,106,609 LOC285191, MTERF4, 103 more genes
    nsv4674624copy number variation1nstd102humanPathogenic GRCh37 chr2: 234,791,927-242,783,384 , GRCh38.p12 chr2: 233,883,281-241,841,232 LOC93463, DUSP28, 151 more genes
    nsv4674620copy number variation1nstd102humanPathogenic GRCh37 chr2: 237,265,271-242,783,384 , GRCh38.p12 chr2: 236,356,628-241,841,232 OR6B2, COPS8, 122 more genes
    nsv4674409copy number variation1nstd102humanPathogenic GRCh37 chr2: 239,914,717-242,783,384 , GRCh38.p12 chr2: 238,993,021-241,841,232 GAL3ST2, UICLM, 68 more genes
    nsv4674036copy number variation1nstd102humanPathogenic GRCh37 chr2: 236,172,348-241,611,309 , GRCh38.p12 chr2: 235,263,704-240,671,892 ILKAP, MLPH, 95 more genes
    nsv4673913copy number variation1nstd102humanPathogenic GRCh37 chr2: 230,814,690-242,783,384 , GRCh38.p12 chr2: 229,949,974-241,841,232 MIR2467, D2HGDH, 270 more genes
    nsv4673906copy number variation1nstd102humanPathogenic GRCh37 chr2: 240,112,450-242,783,384 , GRCh38.p12 chr2: 239,190,754-241,841,232 HDLBP-AS1, MIR4786, 66 more genes
    nsv4583644copy number variation1nstd183human GRCh37 chr2: 241,450,639-241,527,840 , GRCh38.p12 chr2: 240,511,222-240,588,423 ANKMY1, CAPN10, 3 more genes
    nsv4578473copy number variation1nstd102humanUncertain significance GRCh37 chr2: 241,404,033-242,684,292 , GRCh38.p12 chr2: 240,464,616-241,744,877 SEPTIN2, CROCC2, 42 more genes
    nsv4436652copy number variation1nstd102humanPathogenic GRCh37 chr2: 239,894,072-243,048,760 , GRCh38.p12 chr2: 238,972,376-242,106,609 HDAC4-AS1, LOC105373971, 79 more genes
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