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Items: 1 to 20 of 168

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv6926225copy number variation1nstd229human GRCh38 chr12: 49,806,728-50,041,233 , GRCh37.p13 chr12: 50,200,511-50,435,016 RACGAP1, AQP5, 13 more genes
    nsv6634466copy number variation1nstd102humanUncertain significance GRCh37 chr12: 50,331,947-50,439,383 , GRCh38.p12 chr12: 49,938,164-50,045,600 LOC105369763, AQP5-AS1, 5 more genes
    nsv6309320copy number variation1nstd102humanPathogenic GRCh37 chr12: 50,348,473-50,357,918 , GRCh38.p12 chr12: 49,954,690-49,964,135 AQP5-AS1, AQP2, 2 more genes
    nsv6285694insertion1nstd214human GRCh38 chr12: 49,962,495-49,962,495 , GRCh37.p13 chr12: 50,356,278-50,356,278 AQP5, AQP5-AS1
    nsv6143433copy number variation1nstd206human GRCh38 chr12: 49,956,128-49,963,000 , GRCh37.p13 chr12: 50,349,911-50,356,783 AQP2, AQP5, 2 more genes
    nsv6143026copy number variation1nstd206human GRCh38 chr12: 48,500,915-111,724,058 , GRCh37.p13 chr12: 48,894,698-112,161,862 , LINC00592, 1206 more genes
    nsv6132250copy number variation1nstd213human GRCh37 chr12: 49,440,000-51,850,001 , GRCh38.p12 chr12: 49,046,217-51,456,217 DAZAP2, KCNH3, 83 more genes
    nsv6089452insertion1nstd212human GRCh38 chr12: 49,962,519-49,962,519 , GRCh37.p13 chr12: 50,356,302-50,356,302 AQP5-AS1, AQP5
    nsv5968503insertion1nstd209human GRCh38 chr12: 49,962,495-49,962,495 , GRCh37.p13 chr12: 50,356,278-50,356,278 AQP5-AS1, AQP5
    nsv5646042insertion1nstd207human GRCh38 chr12: 49,962,495-49,962,495 , GRCh37.p13 chr12: 50,356,278-50,356,278 AQP5-AS1, AQP5
    nsv5549194insertion1nstd206human GRCh38 chr12: 49,962,532-49,962,546 , GRCh37.p13 chr12: 50,356,315-50,356,329 AQP5, AQP5-AS1
    nsv5040224inversion1nstd200human GRCh38 chr12: 47,213,128-71,357,206 , GRCh37.p13 chr12: 47,606,911-71,750,986 , NR4A1, 686 more genes
    nsv4756602insertion1nstd199human GRCh37 chr12: 50,356,287-50,356,287 , GRCh38.p12 chr12: 49,962,504-49,962,504 AQP5, AQP5-AS1
    nsv4755205inversion1nstd199human GRCh37 chr12: 25,956,127-125,801,151 , GRCh38.p12 chr12: 25,803,193-125,316,605 , ACACB, 1787 more genes
    nsv4736781copy number variation1nstd199human GRCh37 chr12: 25,957,322-125,801,148 , GRCh38.p12 chr12: 25,804,388-125,316,602 , RNA5SP368, 1787 more genes
    nsv4723336insertion1nstd186human GRCh37 chr12: 50,356,278-50,356,278 , GRCh38.p12 chr12: 49,962,495-49,962,495 AQP5-AS1, AQP5
    nsv4611322copy number variation1nstd183human GRCh37 chr12: 50,355,200-50,355,978 , GRCh38.p12 chr12: 49,961,417-49,962,195 AQP5-AS1, AQP5
    nsv4552155insertion1nstd166human GRCh37.p13 chr12: 50,356,278-50,356,278 , GRCh38.p12 chr12: 49,962,495-49,962,495 AQP5, AQP5-AS1
    nsv4385013copy number variation1nstd173human GRCh37 chr12: 50,199,651-50,434,014 , GRCh38.p12 chr12: 49,805,868-50,040,231 , FAIM2, 14 more genes
    nsv4376507copy number variation2nstd173human GRCh37 chr12: 50,199,682-50,434,033 , GRCh38.p12 chr12: 49,805,899-50,040,250 , BCDIN3D-AS1, 14 more genes
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