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Items: 1 to 20 of 157

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099193copy number variation1nstd231human GRCh38.p12 chr1: 32,456,017-38,905,781 , GRCh37 chr1: 32,921,618-39,371,453 AK2, COL8A2, 151 more genes
    nsv7054580inversion1nstd229human GRCh38 chr1: 33,076,956-33,688,708 , GRCh37.p13 chr1: 33,542,557-34,154,308 RN7SKP16, ZNF362, 11 more genes
    nsv7046389inversion1nstd229human GRCh38 chr1: 31,492,639-36,569,102 , GRCh37.p13 chr1: 32,017,064-37,034,703 LOC105378642, TMEM35B, 127 more genes
    nsv6648504copy number variation1nstd229human GRCh38 chr1: 33,319,501-33,322,400 , GRCh37.p13 chr1: 33,785,102-33,788,001 A3GALT2, PHC2
    nsv6648503copy number variation1nstd229human GRCh38 chr1: 33,208,633-33,310,061 , GRCh37.p13 chr1: 33,674,234-33,775,662 ZNF362, A3GALT2
    nsv6335222copy number variation1nstd223human GRCh38 chr1: 33,321,101-33,322,400 , GRCh37.p13 chr1: 33,786,702-33,788,001 A3GALT2, PHC2
    nsv6333983copy number variation1nstd223human GRCh38 chr1: 33,306,001-33,307,500 , GRCh37.p13 chr1: 33,771,602-33,773,101 A3GALT2
    nsv6330985copy number variation1nstd223human GRCh38 chr1: 33,319,586-33,322,113 , GRCh37.p13 chr1: 33,785,187-33,787,714 A3GALT2, PHC2
    nsv6324148copy number variation1nstd223human GRCh38 chr1: 33,319,801-33,321,200 , GRCh37.p13 chr1: 33,785,402-33,786,801 A3GALT2
    nsv6316733copy number variation1nstd223human GRCh38 chr1: 33,319,801-33,322,700 , GRCh37.p13 chr1: 33,785,402-33,788,301 PHC2, A3GALT2
    nsv6313688copy number variation1nstd102humanPathogenic GRCh37 chr1: 33,285,582-47,891,811 , GRCh38.p12 chr1: 32,819,981-47,426,139 LOC107984940, PPIAP36, 407 more genes
    nsv6133869copy number variation1nstd213human GRCh37 chr1: 33,400,000-36,950,001 , GRCh38.p12 chr1: 32,934,399-36,484,400 AK2, COL8A2, 77 more genes
    nsv5983949copy number variation1nstd212human GRCh38 chr1: 33,319,838-33,322,004 , GRCh37.p13 chr1: 33,785,439-33,787,605 A3GALT2, PHC2
    nsv5883425copy number variation1nstd209human GRCh38 chr1: 33,319,847-33,322,382 , GRCh37.p13 chr1: 33,785,448-33,787,983 PHC2, A3GALT2
    nsv5873039copy number variation1nstd209human GRCh38 chr1: 33,319,680-33,322,382 , GRCh37.p13 chr1: 33,785,281-33,787,983 PHC2, A3GALT2
    nsv5829999copy number variation1nstd209human GRCh38 chr1: 33,319,808-33,322,107 , GRCh37.p13 chr1: 33,785,409-33,787,708 A3GALT2, PHC2
    nsv5690957mobile element insertion1nstd211human GRCh38 chr1: 33,308,780-33,308,780 , GRCh37.p13 chr1: 33,774,381-33,774,381 A3GALT2
    nsv5689510mobile element insertion2nstd211human GRCh38 chr1: 33,317,415-33,317,415 , GRCh37.p13 chr1: 33,783,016-33,783,016 A3GALT2
    nsv5424757copy number variation1nstd206human GRCh38 chr1: 33,319,754-33,322,359 , GRCh37.p13 chr1: 33,785,355-33,787,960 A3GALT2, PHC2
    nsv5396406mobile element insertion1nstd206human GRCh38 chr1: 33,317,415-33,317,466 , GRCh37.p13 chr1: 33,783,016-33,783,067 A3GALT2
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