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Items: 1 to 20 of 148

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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
    nsv6162461copy number variation1nstd214human GRCh38 chr1: 120,431,321-120,431,372 , GRCh37.p13 chr1|NW_003871056.3: 502,895-502,946 NBPF8, PFN1P2
    nsv6139042copy number variation1nstd206human GRCh37.p13 chr1|NW_003871056.3: 485,409-693,409 , GRCh38 chr1: 120,413,835-120,621,835 , NBPF8, 3 more genes
    nsv6058109insertion1nstd212human GRCh38 chr1: 120,431,494-120,431,494 , GRCh37.p13 chr1|NW_003871056.3: 503,068-503,068 PFN1P2, NBPF8
    nsv5980945copy number variation1nstd212human GRCh38 chr1: 120,431,319-120,431,371 , GRCh37.p13 chr1|NW_003871056.3: 502,893-502,945 PFN1P2, NBPF8
    nsv5952563insertion1nstd209human GRCh37.p13 chr1|NW_003871056.3: 502,964-502,964 , GRCh38 chr1: 120,431,390-120,431,390 NBPF8, PFN1P2
    nsv5670124inversion1nstd207human GRCh38 chr1: 120,347,621-120,809,375 , GRCh37.p13 chr1: 144,526,678-144,825,594 , GRCh37.p13 chr1|NW_003871056.3: 419,195-880,949 , NBPF8, 8 more genes
    nsv5610933insertion1nstd207human GRCh38 chr1: 120,431,492-120,431,492 , GRCh37.p13 chr1|NW_003871056.3: 503,066-503,066 PFN1P2, NBPF8
    nsv5575730copy number variation1nstd207human GRCh38 chr1: 120,431,344-120,431,398 , GRCh37.p13 chr1|NW_003871056.3: 502,918-502,972 NBPF8, PFN1P2
    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
    nsv5216166copy number variation1nstd204human GRCh38.p13 chr1: 120,430,101-120,430,900 , GRCh37.p13 chr1|NW_003871056.3: 501,675-502,474 PFN1P2, NBPF8
    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
    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
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