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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5414164copy number variation1nstd206human GRCh38 chr1: 42,396,191-42,396,271 , GRCh37.p13 chr1: 42,861,862-42,861,942 RIMKLA
    nsv5329344translocation1nstd204human GRCh38.p13 chr1: 42,384,950-42,384,950 , GRCh38.p13 chr1: 42,389,786-42,389,786 , GRCh37.p13 chr1: 42,855,457-42,855,457 , GRCh37.p13 chr1: 42,850,621-42,850,621 RIMKLA
    nsv5207746copy number variation1nstd204human GRCh38.p13 chr1: 42,384,992-42,390,396 , GRCh37.p13 chr1: 42,850,663-42,856,067 RIMKLA
    nsv4906157copy number variation1nstd200human GRCh38 chr1: 42,406,752-42,409,819 , GRCh37.p13 chr1: 42,872,423-42,875,490 RIMKLA
    nsv4903406copy number variation1nstd200human GRCh38 chr1: 42,064,199-42,539,759 , GRCh37.p13 chr1: 42,529,870-43,005,430 GUCA2B, RIMKLA, 8 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
    nsv4581826copy number variation1nstd183human GRCh37 chr1: 42,875,480-42,875,895 , GRCh38.p12 chr1: 42,409,809-42,410,224 RIMKLA
    nsv4581112copy number variation2nstd183human GRCh37 chr1: 42,855,183-42,857,734 , GRCh38.p12 chr1: 42,389,512-42,392,063 RIMKLA
    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
    nsv4043393copy number variation1nstd166human GRCh37.p13 chr1: 42,844,000-42,871,000 , GRCh38.p12 chr1: 42,378,329-42,405,329 RIMKLA
    nsv4033389copy number variation1nstd166human GRCh37.p13 chr1: 42,861,862-42,861,942 , GRCh38.p12 chr1: 42,396,191-42,396,271 RIMKLA
    nsv3924296copy number variation1nstd102humanUncertain significance NCBI36 chr1: 41,641,081-42,802,293 , GRCh37.p13 chr1: 41,868,494-43,029,706 , GRCh38.p12 chr1: 41,402,822-42,564,035 HIVEP3, LOC105378678, 14 more genes
    nsv3908884copy number variation1nstd102humanPathogenic GRCh37 chr1: 41,300,076-43,588,742 , GRCh38 chr1: 40,834,404-43,123,071 , NCBI36 chr1: 41,072,663-43,361,329 PPCS, ZNF691, 46 more genes
    nsv3900473copy number variation1nstd102humanPathogenic GRCh38 chr1: 40,693,289-44,514,104 , GRCh37 chr1: 41,158,961-44,979,776 , NCBI36 chr1: 40,931,548-44,752,363 KDM4A, RN7SL326P, 102 more genes
    nsv3892747copy number variation1nstd102humanPathogenic NCBI36 chr1: 40,700,674-44,906,299 , GRCh37 chr1: 40,928,087-45,133,712 , GRCh38 chr1: 40,462,415-44,668,040 ERMAP, LOC100419796, 116 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 , SNAP47, 4927 more genes
    nsv3885080copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 41,343,608-43,121,507 , GRCh38.p12 chr1: 40,877,936-42,655,836 CTPS1, EDN2, 26 more genes
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