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Items: 1 to 20 of 266

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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
    nsv7098839copy number variation1nstd102humanPathogenic GRCh37 chr1: 146,405,854-147,597,284 , GRCh38.p12 chr1: 145,598,009-149,077,123 CCT8P1, LINC01719, 120 more genes
    nsv7098724copy number variation1nstd102humanPathogenic GRCh37 chr1: 146,397,357-148,344,744 , GRCh38.p12 chr1: 144,536,526-148,549,211 , LOC105371217, 150 more genes
    nsv7056211inversion1nstd229human GRCh38 chr1: 143,881,700-152,159,818 , GRCh37.p13 chr1|NW_003871055.3: 697,113-7,283,150 , PDIA3P1, 333 more genes
    nsv6634349copy number variation1nstd102humanPathogenic GRCh37 chr1: 145,157,447-148,016,122 , GRCh38.p12 chr1: 144,536,526-149,492,442 , TRN-GTT10-1, 170 more genes
    nsv6542731inversion1nstd223human GRCh38 chr1: 147,056,374-148,969,054 , GRCh37.p13 chr1|NW_003871055.3: 3,871,787-5,784,467 , LINC01731, 75 more genes
    nsv6290404copy number variation1nstd102humanPathogenic GRCh37 chr1: 146,043,714-148,514,899 , GRCh38.p12 chr1: 144,536,526-148,549,211 , TRN-GTT9-2, 150 more genes
    nsv6290073copy number variation1nstd218human GRCh38.p12 chr1: 143,511,409-149,082,254 , GRCh37 chr1: 147,824,148-149,378,266 , BCL9, 215 more genes
    nsv6290072copy number variation1nstd218human GRCh38.p12 chr16: 34,632,766-36,225,009 , GRCh38.p12 chr7: 61,006,478-62,429,617 , GRCh38.p12 chr1: 146,347,888-148,514,931 , GRCh37 chr1: 147,806,599-149,821,717 , BCL9, 149 more genes
    nsv6290071copy number variation1nstd218human GRCh38.p12 chr1: 143,511,409-149,082,254 , GRCh37 chr1: 147,806,599-149,209,289 , BCL9, 215 more genes
    nsv6289910copy number variation1nstd102humanLikely pathogenic GRCh37.p13 chr1|NW_003871055.3: 2,417,359-5,412,838 , GRCh38 chr1: 145,601,946-148,597,425 BCL9, FMO5, 110 more genes
    nsv6109216inversion1nstd212human GRCh37.p13 chr1|NW_003871055.3: 3,128,345-6,166,149 , GRCh38 chr1: 146,312,932-149,350,736 , BCL9, 98 more genes
    nsv5665280inversion1nstd207human GRCh38 chr1: 146,323,908-149,356,055 , GRCh37.p13 chr1|NW_003871055.3: 3,139,321-6,171,468 , BCL9, 98 more genes
    nsv5564689copy number variation1nstd207human GRCh38 chr1: 148,481,410-148,481,548 , GRCh37.p13 chr1|NW_003871055.3: 5,296,823-5,296,961 PPIAL4G
    nsv5429333copy number variation1nstd206human GRCh38 chr1: 148,092,587-148,533,250 , GRCh37.p13 chr1|NW_003871055.3: 4,908,000-5,348,663 , GRCh37.p13 chr1: 146,034,012-147,581,127 ABHD17AP1, PDE4DIPP1, 31 more genes
    nsv5414368copy number variation1nstd206human GRCh37.p13 chr1|NW_003871055.3: 5,268,000-5,368,706 , GRCh38 chr1: 148,452,587-148,553,293 TRN-GTT2-1, LINC01138, 3 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
    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
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