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Items: 1 to 20 of 143

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5431073copy number variation1nstd206human GRCh38 chr1: 109,590,493-109,903,664 , GRCh37.p13 chr1: 110,133,115-110,446,286 GSTM3, GSTM1, 12 more genes
    nsv5422101copy number variation1nstd206human GRCh38 chr1: 109,742,200-109,752,692 , GRCh37.p13 chr1: 110,284,822-110,295,314 EPS8L3
    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
    nsv5293062copy number variation1nstd204human GRCh38.p13 chr1: 109,590,471-109,903,689 , GRCh37.p13 chr1: 110,133,093-110,446,311 RNU6V, GSTM2, 12 more genes
    nsv5208564copy number variation1nstd204human GRCh38.p13 chr1: 109,699,801-109,903,700 , GRCh37.p13 chr1: 110,242,423-110,446,322 NDUFA5P10, LINC01768, 3 more genes
    nsv5208106copy number variation1nstd204human GRCh38.p13 chr1: 109,750,335-109,791,095 , GRCh37.p13 chr1: 110,292,957-110,333,717 EPS8L3
    nsv4894405copy number variation1nstd200human GRCh38 chr1: 109,739,353-109,788,635 , GRCh37.p13 chr1: 110,281,975-110,331,257 EPS8L3, GSTM3
    nsv4781113copy number variation1nstd200human GRCh37 chr1: 110,281,975-110,331,257 , GRCh38.p12 chr1: 109,739,353-109,788,635 GSTM3, EPS8L3
    nsv4781111copy number variation1nstd200human GRCh37 chr1: 110,133,115-110,446,286 , GRCh38.p12 chr1: 109,590,493-109,903,664 AMPD2, MIR197, 12 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
    nsv4453820copy number variation1nstd102humanUncertain significance GRCh37 chr1: 110,295,035-110,587,956 , GRCh38.p12 chr1: 109,752,413-110,045,334 CSF1, LOC105378895, 5 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
    nsv3970411copy number variation1nstd168human GRCh38 chr1: 109,598,929-109,812,030 , GRCh37.p13 chr1: 110,141,551-110,354,652 AMPD2, GSTM4, 10 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
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