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Items: 1 to 20 of 195

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5590708copy number variation1nstd207human GRCh38 chr12: 56,783,620-56,783,669 , GRCh37.p13 chr12: 57,177,404-57,177,453 HSD17B6
    nsv5509883copy number variation1nstd206human GRCh38 chr12: 56,749,069-56,751,311 , GRCh37.p13 chr12: 57,142,853-57,145,095 HSD17B6, PRIM1
    nsv5508207copy number variation1nstd206human GRCh38 chr12: 56,784,620-56,790,493 , GRCh37.p13 chr12: 57,178,404-57,184,277 HSD17B6
    nsv5508119copy number variation1nstd206human GRCh38 chr12: 56,763,115-56,780,910 , GRCh37.p13 chr12: 57,156,899-57,174,694 HSD17B6
    nsv5495382copy number variation1nstd206human GRCh38 chr12: 56,783,000-56,788,128 , GRCh37.p13 chr12: 57,176,784-57,181,912 HSD17B6
    nsv5136268mobile element insertion1nstd203human GRCh38 chr12: 56,781,592-56,781,602 , GRCh37.p13 chr12: 57,175,376-57,175,386 HSD17B6
    nsv5132331mobile element insertion1nstd203human GRCh38 chr12: 56,788,208-56,788,217 , GRCh37.p13 chr12: 57,181,992-57,182,001 HSD17B6
    nsv5124396mobile element insertion1nstd203human GRCh38 chr12: 56,788,205-56,788,217 , GRCh37.p13 chr12: 57,181,989-57,182,001 HSD17B6
    nsv5040224inversion1nstd200human GRCh38 chr12: 47,213,128-71,357,206 , GRCh37.p13 chr12: 47,606,911-71,750,986 , NR4A1, 686 more genes
    nsv5036282inversion1nstd200human GRCh38 chr12: 52,338,357-95,425,642 , GRCh37.p13 chr12: 52,732,141-95,819,418 , MIR6502, 769 more genes
    nsv4883504inversion1nstd200human GRCh37 chr12: 52,732,141-95,819,418 , GRCh38.p12 chr12: 52,338,357-95,425,642 , MYL6B, 769 more genes
    nsv4755205inversion1nstd199human GRCh37 chr12: 25,956,127-125,801,151 , GRCh38.p12 chr12: 25,803,193-125,316,605 , ACACB, 1787 more genes
    nsv4738316copy number variation1nstd199human GRCh37 chr12: 57,177,053-57,177,105 , GRCh38.p12 chr12: 56,783,269-56,783,321 HSD17B6
    nsv4736781copy number variation1nstd199human GRCh37 chr12: 25,957,322-125,801,148 , GRCh38.p12 chr12: 25,804,388-125,316,602 , RNA5SP368, 1787 more genes
    nsv4675143copy number variation1nstd102humanPathogenic GRCh37 chr12: 55,552,371-62,126,304 , GRCh38.p12 chr12: 55,158,587-61,732,523 OR6C71P, METTL1, 183 more genes
    nsv4607753copy number variation1nstd183human GRCh37 chr12: 57,156,850-57,174,590 , GRCh38.p12 chr12: 56,763,066-56,780,806 HSD17B6
    nsv4574608mobile element insertion1nstd166human GRCh37.p13 chr12: 57,156,434-57,156,434 , GRCh38.p12 chr12: 56,762,650-56,762,650 HSD17B6
    nsv4573951mobile element insertion1nstd166human GRCh37.p13 chr12: 57,174,839-57,174,839 , GRCh38.p12 chr12: 56,781,055-56,781,055 HSD17B6
    nsv4515879mobile element insertion1nstd166human GRCh37.p13 chr12: 57,168,167-57,168,167 , GRCh38.p12 chr12: 56,774,383-56,774,383 HSD17B6
    nsv4506732mobile element insertion1nstd166human GRCh37.p13 chr12: 57,181,989-57,181,989 , GRCh38.p12 chr12: 56,788,205-56,788,205 HSD17B6
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