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Items: 1 to 20 of 209

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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
    nsv5875007copy number variation1nstd209human GRCh38 chr1: 145,281,398-145,281,485 , GRCh37.p13 chr1|NW_003871055.3: 2,096,811-2,096,898 , GRCh37.p13 chr1: 148,241,747-148,241,834 RNVU1-14, LOC101060170
    nsv5428273copy number variation1nstd206human GRCh38 chr1: 145,281,398-145,281,489 , GRCh37.p13 chr1|NW_003871055.3: 2,096,811-2,096,902 , GRCh37.p13 chr1: 148,241,747-148,241,838 RNVU1-14, LOC101060170
    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
    nsv5220091copy number variation1nstd204human GRCh38.p13 chr1: 145,275,001-145,280,900 , GRCh37.p13 chr1: 148,235,349-148,241,248 , GRCh37.p13 chr1|NW_003871055.3: 2,090,414-2,096,313 LOC101060170, RNVU1-14
    nsv5217864copy number variation1nstd204human GRCh38.p13 chr1: 145,278,701-145,280,300 , GRCh37.p13 chr1|NW_003871055.3: 2,094,114-2,095,713 , GRCh37.p13 chr1: 148,239,049-148,240,648 RNVU1-14
    nsv5217208copy number variation1nstd204human GRCh38.p13 chr1: 145,279,701-145,287,600 , GRCh37.p13 chr1: 148,240,049-148,247,949 , GRCh37.p13 chr1|NW_003871055.3: 2,095,114-2,103,013 TRN-GTT2-7, LOC101060170, 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
    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
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