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Items: 1 to 20 of 115

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4674329copy number variation1nstd102humanPathogenic GRCh37 chr19: 35,553,425-36,264,299 , GRCh38.p12 chr19: 35,062,521-35,773,397 LOC105372379, LSR, 50 more genes
    nsv4620651copy number variation1nstd183human GRCh37 chr19: 36,033,210-36,033,428 , GRCh38.p12 chr19: 35,542,308-35,542,526 GAPDHS, TMEM147-AS1
    nsv4574565mobile element insertion1nstd166human GRCh37.p13 chr19: 36,028,815-36,028,815 , GRCh38.p12 chr19: 35,537,913-35,537,913 GAPDHS
    nsv4457800copy number variation1nstd102humanUncertain significance GRCh37 chr19: 35,613,953-36,183,886 , GRCh38.p12 chr19: 35,123,049-35,692,984 SBSN, UPK1A, 38 more genes
    nsv4457372copy number variation1nstd102humanPathogenic GRCh37 chr19: 28,271,106-49,213,832 , GRCh38.p12 chr19: 27,780,198-48,710,575 ZNF461, LOC101927572, 735 more genes
    nsv4350190copy number variation1nstd102humanPathogenic GRCh37 chr19: 35,043,556-36,316,644 , GRCh38.p12 chr19: 34,552,651-35,825,742 SCN1B, ETV2, 76 more genes
    nsv4349605copy number variation1nstd102humanPathogenic GRCh37 chr19: 35,111,811-37,744,992 , GRCh38.p12 chr19: 34,620,906-37,254,090 ATP4A, RNY5P10, 129 more genes
    nsv3919296copy number variation1nstd102humanPathogenic NCBI36 chr19: 34,844,605-43,297,203 , GRCh37 chr19: 30,152,765-38,605,363 , GRCh38 chr19: 29,661,858-38,114,723 UBA2, ZNF529, 241 more genes
    nsv3916007copy number variation1nstd102humanPathogenic GRCh37 chr19: 30,162,231-38,393,630 , NCBI36 chr19: 34,854,071-43,085,470 , GRCh38 chr19: 29,671,324-37,902,990 MAG, RNU6-967P, 238 more genes
    nsv3913730copy number variation1nstd102humanPathogenic NCBI36 chr19: 11,199,618-49,821,491 , GRCh37 chr19: 11,338,618-45,129,651 , GRCh38 chr19: 11,227,942-44,626,354 BCKDHA, ADGRE5, 1102 more genes
    nsv3906538copy number variation1nstd102humanBenign GRCh37 chr19: 35,658,728-36,173,537 , GRCh38.p12 chr19: 35,167,825-35,682,635 ATP4A, UPK1A-AS1, 33 more genes
    nsv3904885copy number variation1nstd102humanPathogenic GRCh37 chr19: 68,029-59,110,290 , GRCh38.p12 chr19: 68,029-58,598,923 ZNF321P, ZNF861P, 2443 more genes
    nsv3903203copy number variation1nstd102humanPathogenic GRCh37 chr19: 260,912-59,097,160 , GRCh38.p12 chr19: 260,912-58,585,793 BABAM1, BEST2, 2426 more genes
    nsv3903092copy number variation2nstd102humanPathogenic GRCh37 chr19: 260,912-58,956,888 , GRCh38.p12 chr19: 260,912-58,445,521 LENG8, SYDE1, 2408 more genes
    nsv3900139copy number variation1nstd102humanPathogenic GRCh37 chr19: 30,735,448-36,120,396 , GRCh38.p12 chr19: 30,244,541-35,629,494 ZNF599, FAM187B2P, 130 more genes
    nsv3168446copy number variation1nstd158human GRCh37 chr19: 35,445,908-45,506,757 , GRCh38.p12 chr19: 34,955,004-45,003,499 , ACTN4, 449 more genes
    nsv2757532copy number variation1nstd130human GRCh37 chr19: 266,034-54,723,310 , GRCh38.p12 chr19: 266,034-54,071,460 , BABAM1, 2197 more genes
    nsv2752158copy number variation1nstd130human GRCh37 chr19: 289,244-58,996,454 , GRCh38.p12 chr19: 289,244-58,485,087 , NFKBIB, 2456 more genes
    nsv1955340short tandem repeat1nstd128human GRCh37 chr19: 36,032,048-36,032,070 , GRCh38.p12 chr19: 35,541,146-35,541,168 TMEM147-AS1, GAPDHS
    nsv1955339short tandem repeat1nstd128human GRCh37 chr19: 36,022,965-36,022,989 , GRCh38.p12 chr19: 35,532,063-35,532,087 GAPDHS
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