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Items: 1 to 20 of 164

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7148054copy number variation1nstd102humanPathogenic GRCh37 chr1: 142,535,935-157,648,813 , GRCh38.p12 chr1: 120,175,847-149,601,750 , TRN-GTT12-1, 266 more genes
    nsv6313671copy number variation1nstd102humanPathogenic GRCh37 chr1: 111,647,582-121,343,783 , GRCh38.p12 chr1: 111,104,960-121,601,985 GAPDHP23, RNA5SP56, 243 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
    nsv5217244copy number variation1nstd204human GRCh38.p13 chr1: 120,940,191-120,947,313 , GRCh37.p13 chr1|NW_003871056.3: 1,011,765-1,018,887 RNVU1-4, LINC00623
    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
    nsv4755673inversion1nstd199human GRCh37 chr1: 120,619,238-145,200,789 , GRCh38.p12 chr1: 120,175,847-149,601,750 , BCL9, 283 more genes
    nsv4752476inversion1nstd199human GRCh37 chr1: 120,532,897-145,288,014 , GRCh38.p12 chr1: 120,175,847-149,601,750 , BCL9, 283 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4750582inversion1nstd199human GRCh37 chr1: 120,676,330-145,143,048 , GRCh38.p12 chr1: 120,133,759-149,528,945 , BCL9, 281 more genes
    nsv4745469copy number variation1nstd199human GRCh37 chr1: 86,005,697-146,486,085 , GRCh38.p12 chr1: 85,540,014-149,528,945 , TAF13, 920 more genes
    nsv4665418copy number variation1nstd186human GRCh37 chr1: 120,671,224-121,145,601 , GRCh38.p12 chr1: 120,128,636-121,403,741 , H2BP1, 41 more genes
    nsv4647051copy number variation1nstd186human GRCh37 chr1: 144,490,000-144,496,000 , GRCh38.p12 chr1: 120,938,220-120,944,205 RNVU1-4, LINC00623
    nsv4578952copy number variation2nstd183human GRCh37 chr1: 120,671,224-121,145,601 , GRCh38.p12 chr1: 120,128,636-121,403,741 , LOC105378944, 41 more genes
    nsv4386948copy number variation1nstd173human GRCh37 chr1: 144,301,745-144,342,778 , GRCh38.p12 chr1: 120,911,216-120,952,230 , LINC00623, 3 more genes
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