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Items: 1 to 20 of 214

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5885134copy number variation1nstd209human GRCh38 chr1: 143,707,729-148,368,205 , GRCh37.p13 chr1|NW_003871055.3: 523,142-5,183,618 , TRN-GTT22-1, 183 more genes
    nsv5424900copy number variation1nstd206human GRCh38 chr1: 145,406,587-145,412,896 , GRCh37.p13 chr1: 148,348,071-148,354,373 , GRCh37.p13 chr1|NW_003871055.3: 2,222,000-2,228,309 , PFN1P3
    nsv5424116copy number variation1nstd206human GRCh38 chr1: 145,406,587-145,418,587 , GRCh37.p13 chr1: 148,348,071-148,360,064 , GRCh37.p13 chr1|NW_003871055.3: 2,222,000-2,234,000 , PFN1P3
    nsv5423852copy number variation1nstd206human GRCh38 chr1: 145,405,243-145,582,587 , GRCh37.p13 chr1|NW_003871055.3: 2,220,656-2,398,000 , PFN1P3, 8 more genes
    nsv5422244copy number variation1nstd206human GRCh37.p13 chr1|NW_003871055.3: 2,203,000-2,233,000 , GRCh38 chr1: 145,387,587-145,417,587 , PFN1P3, 1 more genes
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv5215320copy number variation1nstd204human GRCh38.p13 chr1: 145,403,983-145,406,229 , GRCh37.p13 chr1|NW_003871055.3: 2,219,396-2,221,642 , PFN1P3, 1 more genes
    nsv5213623copy number variation1nstd204human GRCh38.p13 chr1: 145,408,301-145,409,500 , GRCh37.p13 chr1: 148,349,785-148,350,984 , GRCh37.p13 chr1|NW_003871055.3: 2,223,714-2,224,913 , PFN1P3
    nsv5209572copy number variation1nstd204human GRCh38.p13 chr1: 145,392,801-145,418,000 , GRCh37.p13 chr1|NW_003871055.3: 2,208,214-2,233,413 , PFN1P3, 1 more genes
    nsv5209139copy number variation1nstd204human GRCh38.p13 chr1: 145,403,601-145,413,600 , GRCh37.p13 chr1: 148,347,357-148,355,077 , GRCh37.p13 chr1|NW_003871055.3: 2,219,014-2,229,013 , NBPF20, 1 more genes
    nsv5206846copy number variation1nstd204human GRCh38.p13 chr1: 145,403,601-145,418,300 , GRCh37.p13 chr1|NW_003871055.3: 2,219,014-2,233,713 , GRCh37.p13 chr1: 148,347,357-148,359,777 , NBPF20, 1 more genes
    nsv5200303copy number variation1nstd102humanPathogenic GRCh37 chr1: 145,818,702-149,378,266 , GRCh38.p12 chr7: 58,093,723-62,429,627 , GRCh38.p12 chr1: 144,536,526-148,549,211 , LOC105371254, 151 more genes
    nsv4768311copy number variation1nstd102humanUncertain significance GRCh37 chr1: 146,500,000-149,500,001 , GRCh38.p12 chr1: 143,511,409-149,082,254 , LOC105371222, 206 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4767143inversion1nstd199human GRCh37 chr1: 120,531,873-145,289,039 , GRCh38.p12 chr1: 120,175,847-149,601,750 , BCL9, 283 more genes
    nsv4766918inversion1nstd199human GRCh37 chr1: 120,551,446-145,272,979 , GRCh38.p12 chr1: 120,175,847-149,601,750 , BCL9, 283 more genes
    nsv4764905inversion1nstd199human GRCh37 chr1: 120,630,576-145,080,160 , GRCh38.p12 chr1: 120,852,223-149,601,750 , BCL9, 266 more genes
    nsv4763501inversion1nstd199human GRCh37 chr1: 120,697,151-145,118,354 , GRCh38.p12 chr1: 120,154,584-149,528,945 , BCL9, 280 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4760093inversion1nstd199human GRCh37 chr1: 120,619,264-145,202,139 , GRCh38.p12 chr1: 120,175,847-149,601,750 , BCL9, 283 more genes
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