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Items: 1 to 20 of 134

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099223copy number variation1nstd231human GRCh38.p12 chr1: 108,551,579-110,710,631 , GRCh37 chr1: 109,094,201-111,253,253 ALX3, AMPD2, 74 more genes
    nsv7095739copy number variation1nstd102humanPathogenic GRCh37 chr1: 108,679,275-111,674,176 , GRCh38.p12 chr1: 108,136,653-111,131,554 RPL7L1P21, GSTM4, 90 more genes
    nsv6313675copy number variation1nstd102humanPathogenic GRCh37 chr1: 95,046,805-114,714,931 , GRCh38.p12 chr1: 94,581,249-114,172,309 LINC01307, FTLP17, 320 more genes
    nsv6290678copy number variation1nstd102humanUncertain significance GRCh37 chr1: 108,346,477-110,177,123 , GRCh38.p12 chr1: 107,803,855-109,634,501 SYPL2, NDUFB3P1, 53 more genes
    nsv6133726copy number variation1nstd213human GRCh37 chr1: 109,950,000-110,240,001 , GRCh38.p12 chr1: 109,407,378-109,697,379 AMPD2, GNAI3, 14 more genes
    nsv5381058copy number variation1nstd102humanPathogenic GRCh37 chr1: 102,021,465-119,737,478 , GRCh38.p12 chr1: 101,555,909-119,194,855 AMYP1, MIR4256, 320 more genes
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4761183inversion1nstd199human GRCh37 chr1: 16,884,570-145,374,569 , GRCh38.p12 chr1: 16,558,075-149,528,945 , ABCA4, 2341 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 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
    nsv4453642copy number variation1nstd102humannot provided GRCh37 chr1: 108,926,313-111,266,497 , GRCh38.p12 chr1: 108,383,691-110,723,875 PSMA5, GSTM1, 79 more genes
    nsv4436700copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 107,779,092-111,199,205 , GRCh38.p12 chr1: 107,236,470-110,656,583 ALX3, AMPD2, 89 more genes
    nsv4330538inversion1nstd166human GRCh37.p13 chr1: 94,223,082-113,632,613 , GRCh38.p12 chr1: 93,757,526-113,089,991 , AMPD2, 329 more genes
    nsv4067597copy number variation1nstd166human GRCh37.p13 chr1: 109,977,364-110,184,878 , GRCh38.p12 chr1: 109,434,742-109,642,256 SYPL2, CYB561D1, 9 more genes
    nsv3920130copy number variation1nstd102humanPathogenic NCBI36 chr1: 103,429,843-112,252,782 , GRCh37.p13 chr1: 103,657,255-112,451,259 , GRCh38.p12 chr1: 103,191,699-111,908,637 LOC105378898, LOC105378901, 166 more genes
    nsv3909407copy number variation1nstd102humanPathogenic GRCh37 chr1: 106,617,209-110,686,912 , GRCh38 chr1: 106,074,587-110,144,290 , NCBI36 chr1: 106,418,732-110,488,435 PSMA5, STXBP3, 81 more genes
    nsv3902639copy number variation1nstd102humanUncertain significance GRCh38 chr1: 108,970,247-109,794,222 , NCBI36 chr1: 109,314,392-110,138,367 , GRCh37 chr1: 109,512,869-110,336,844 GSTM2, MYBPHL, 35 more genes
    nsv3901806copy number variation1nstd102humanPathogenic NCBI36 chr1: 105,812,437-112,534,771 , GRCh38 chr1: 105,468,292-112,190,626 , GRCh37 chr1: 106,010,914-112,733,248 LOC126987, VAV3-AS1, 151 more genes
    nsv3901500copy number variation1nstd102humanPathogenic NCBI36 chr1: 101,856,241-112,047,173 , GRCh38 chr1: 101,618,097-111,703,028 , GRCh37 chr1: 102,083,653-112,245,650 CHIAP1, LOC105378888, 171 more genes
    nsv3893941copy number variation1nstd102humanPathogenic NCBI36 chr1: 97,648,746-111,014,655 , GRCh37 chr1: 97,876,158-111,213,132 , GRCh38 chr1: 97,410,602-110,670,510 RPSAP19, ATXN7L2, 196 more genes
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