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Items: 1 to 20 of 166

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7147090insertion1nstd232human GRCh37.p13 chr19: 8,038,769-8,038,769 , GRCh38.p12 chr19: 7,973,885-7,973,885 ELAVL1
    nsv7095726copy number variation1nstd102humanPathogenic GRCh37 chr19: 6,361,586-8,212,364 , GRCh38.p12 chr19: 6,361,575-8,147,480 SLC25A23, LYPLA2P2, 77 more genes
    nsv7095676copy number variation1nstd102humanUncertain significance GRCh37 chr19: 7,586,521-8,670,595 , GRCh38.p12 chr19: 7,521,635-8,605,710 LRRC8E, ZNF414, 53 more genes
    nsv7070187inversion1nstd229human GRCh38 chr19: 6,518,823-8,315,881 , GRCh37.p13 chr19: 6,518,834-8,380,765 , ZNF557, 69 more genes
    nsv7066716inversion1nstd229human GRCh38 chr19: 6,518,017-8,344,162 , GRCh37.p13 chr19: 6,518,028-8,409,046 , STXBP2, 71 more genes
    nsv7062847inversion1nstd229human GRCh38 chr19: 7,473,530-8,349,302 , GRCh37.p13 chr19: 7,538,416-8,414,186 CERS4, LYPLA2P2, 47 more genes
    nsv7011964copy number variation1nstd229human GRCh38 chr19: 7,354,369-9,019,195 , GRCh37.p13 chr19: 7,419,271-9,129,871 , MCOLN1, 66 more genes
    nsv7011121copy number variation1nstd229human GRCh38 chr19: 7,159,006-9,938,147 , GRCh37.p13 chr19: 7,159,017-10,048,823 , OR7G1, 117 more genes
    nsv7008259copy number variation1nstd229human GRCh38 chr19: 7,998,743-7,998,788 , GRCh37.p13 chr19: 8,063,627-8,063,672 ELAVL1
    nsv7005559copy number variation1nstd229human GRCh38 chr19: 7,996,904-7,999,516 , GRCh37.p13 chr19: 8,061,788-8,064,400 ELAVL1
    nsv6526865copy number variation1nstd223human GRCh38 chr19: 7,982,182-7,983,401 , GRCh37.p13 chr19: 8,047,066-8,048,285 ELAVL1
    nsv6314426complex chromosomal rearrangement2nstd102humanPathogenic GRCh38.p12 chr19: 7,965,242-7,965,242 , GRCh38.p12 chr19: 7,965,249-7,965,249 , GRCh37 chr19: 8,030,133-8,030,133 , GRCh37 chr19: 8,030,126-8,030,126 , GRCh37 chr11: 45,965,069-45,965,069 , GRCh37 chr11: 45,965,064-45,965,064 , GRCh38.p12 chr11: 45,943,513-45,943,513 , GRCh38.p12 chr11: 45,943,518-45,943,518 ELAVL1, PHF21A
    nsv6242777mobile element insertion1nstd215human GRCh38 chr19: 7,995,162-7,995,162 , GRCh37.p13 chr19: 8,060,046-8,060,046 ELAVL1
    nsv6199192copy number variation1nstd214human GRCh38 chr19: 7,961,314-7,961,368 , GRCh37.p13 chr19: 8,026,198-8,026,252 ELAVL1
    nsv6133698copy number variation1nstd213human GRCh37 chr19: 2,900,000-11,490,001 , GRCh38.p12 chr19: 2,900,002-11,379,325 , TLE5, 341 more genes
    nsv6133528copy number variation1nstd213human GRCh37 chr19: 7,780,000-8,030,001 , GRCh38.p12 chr19: 7,715,114-7,965,117 TIMM44, PRR36, 17 more genes
    nsv6133479copy number variation1nstd213human GRCh37 chr19: 7,400,000-13,280,001 , GRCh38.p12 chr19: 7,335,095-13,169,187 , ACP5, 299 more genes
    nsv6105520insertion1nstd212human GRCh38 chr19: 7,957,388-7,957,388 , GRCh37.p13 chr19: 8,022,273-8,022,273 ELAVL1
    nsv6053585copy number variation1nstd212human GRCh38 chr19: 7,961,328-7,961,383 , GRCh37.p13 chr19: 8,026,212-8,026,267 ELAVL1
    nsv6042555copy number variation1nstd212human GRCh38 chr19: 7,972,750-7,972,859 , GRCh37.p13 chr19: 8,037,634-8,037,743 ELAVL1
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