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Items: 1 to 20 of 149

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5973406inversion1nstd209human GRCh38 chr1: 39,495,172-39,785,617 , GRCh37.p13 chr1: 39,960,844-40,251,289 BMP8B, PABPC4, 14 more genes
    nsv5873070copy number variation1nstd209human GRCh38 chr1: 39,621,905-39,622,306 , GRCh37.p13 chr1: 40,087,577-40,087,978 HEYL
    nsv5671914inversion1nstd207human GRCh38 chr1: 39,511,549-39,776,456 , GRCh37.p13 chr1: 39,977,221-40,242,128 BMP8B, PABPC4, 12 more genes
    nsv5351188translocation1nstd200human GRCh38 chr1: 39,634,543-39,634,543 , GRCh38 chr1: 39,634,646-39,634,646 , GRCh37.p13 chr1: 40,100,318-40,100,318 , GRCh37.p13 chr1: 40,100,215-40,100,215 HEYL
    nsv4903392copy number variation1nstd200human GRCh38 chr1: 39,595,461-39,682,624 , GRCh37.p13 chr1: 40,061,133-40,148,296 HPCAL4, HEYL, 1 more genes
    nsv4780788copy number variation1nstd200human GRCh37 chr1: 40,061,133-40,148,296 , GRCh38.p12 chr1: 39,595,461-39,682,624 HPCAL4, HEYL, 1 more genes
    nsv4769331copy number variation1nstd102humanUncertain significance GRCh37 chr1: 39,340,597-40,603,856 , GRCh38.p12 chr1: 38,874,925-40,138,184 GJA9, BMP8B, 39 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
    nsv4452946copy number variation1nstd102humanUncertain significance GRCh37 chr1: 40,007,947-40,280,565 , GRCh38.p12 chr1: 39,542,275-39,814,893 NT5C1A, SNORA55, 13 more genes
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 LINC01776, IGSF21-AS1, 1853 more genes
    nsv4326932inversion1nstd166human GRCh37.p13 chr1: 35,173,490-93,458,530 , GRCh38.p12 chr1: 34,707,889-92,992,973 , ATP6V0B, 1069 more genes
    nsv4043415copy number variation1nstd166human GRCh37.p13 chr1: 40,099,155-40,104,030 , GRCh38.p12 chr1: 39,633,483-39,638,358 HEYL
    nsv3905829copy number variation1nstd102humanPathogenic GRCh38 chr1: 39,360,747-40,900,817 , GRCh37 chr1: 39,826,419-41,366,489 , NCBI36 chr1: 39,599,006-41,139,076 RLF, LOC105378671, 53 more genes
    nsv3901163copy number variation1nstd102humanPathogenic GRCh37 chr1: 24,707,696-41,886,350 , GRCh38 chr1: 24,381,206-41,401,517 , NCBI36 chr1: 24,580,283-41,658,937 TMEM222, ZBTB8OS, 453 more genes
    nsv3893621copy number variation1nstd102humanPathogenic GRCh38 chr1: 38,108,665-42,327,551 , NCBI36 chr1: 38,346,924-42,565,809 , GRCh37 chr1: 38,574,337-42,793,222 NT5C1A, FOXO6, 98 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 , SNAP47, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 , RNU1-153P, 4887 more genes
    nsv3882279copy number variation1nstd102humannot provided GRCh37 chr1: 40,097,132-40,236,108 , GRCh38.p12 chr1: 39,631,460-39,770,436 HEYL, PPIE, 6 more genes
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