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Items: 1 to 20 of 163

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5672903copy number variation1nstd102humanPathogenic GRCh37 chr19: 42,787,040-42,795,446 , GRCh38 chr19: 42,282,888-42,291,294 CIC
    nsv5564233copy number variation1nstd102humanPathogenic GRCh38 chr19: 42,032,860-42,297,536 , GRCh37.p13 chr19: 42,537,012-42,801,688 POU2F2, ERF, 9 more genes
    nsv5564232copy number variation1nstd102humanPathogenic GRCh38 chr19: 41,952,441-42,266,625 , GRCh37.p13 chr19: 42,514,712-42,770,777 CIC, ERF, 10 more genes
    nsv5562413sequence alteration1nstd206human GRCh38 chr19: 41,797,706-42,527,281 , GRCh37.p13 chr19: 42,514,712-43,031,433 MEGF8, LIPE, 34 more genes
    nsv5554149sequence alteration1nstd206human GRCh38 chr19: 41,749,279-42,444,786 , GRCh37.p13 chr19: 42,514,712-42,948,938 ERF, CEACAM6, 32 more genes
    nsv5298606copy number variation1nstd204human GRCh38.p13 chr19: 42,258,401-42,268,800 , GRCh37.p13 chr19: 42,762,553-42,772,952 CIC
    nsv4668199copy number variation1nstd186human GRCh37 chr19: 42,772,456-42,773,408 , GRCh38.p12 chr19: 42,268,304-42,269,256 CIC
    nsv4633239copy number variation1nstd183human GRCh37 chr19: 42,786,911-42,789,522 , GRCh38.p12 chr19: 42,282,759-42,285,370 CIC
    nsv4619472copy number variation2nstd183human GRCh37 chr19: 42,772,456-42,773,408 , GRCh38.p12 chr19: 42,268,304-42,269,256 CIC
    nsv4535045copy number variation1nstd166human GRCh37.p13 chr19: 42,786,999-42,889,000 , GRCh38.p12 chr19: 42,282,847-42,384,848 MEGF8, PAFAH1B3, 4 more genes
    nsv4513096mobile element insertion1nstd166human GRCh37.p13 chr19: 42,792,469-42,792,469 , GRCh38.p12 chr19: 42,288,317-42,288,317 CIC
    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
    nsv4371980copy number variation1nstd173human GRCh37 chr19: 42,764,208-42,805,635 , GRCh38.p12 chr19: 42,260,056-42,301,483 CIC, PRR19, 1 more genes
    nsv4254567copy number variation1nstd166human GRCh37.p13 chr19: 42,792,892-42,792,969 , GRCh38.p12 chr19: 42,288,740-42,288,817 CIC
    nsv3921916copy number variation1nstd102humanPathogenic NCBI36 chr19: 47,126,886-48,337,448 , GRCh37 chr19: 42,514,712-43,645,608 , GRCh38 chr19: 41,930,894-43,141,456 PSG6, RABAC1, 42 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
    nsv3912447copy number variation1nstd102humanPathogenic NCBI36 chr19: 42,502,119-47,934,680 , GRCh37 chr19: 37,810,279-43,242,840 , GRCh38 chr19: 37,319,377-42,738,688 MIR8077, TRI-TAT1-1, 233 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
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