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Items: 1 to 20 of 150

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5193579mobile element insertion1nstd203human GRCh38 chr1: 38,857,968-38,857,968 , GRCh37.p13 chr1: 39,323,640-39,323,640 RRAGC
    nsv5074076mobile element insertion1nstd203human GRCh38 chr1: 38,849,998-38,850,006 , GRCh37.p13 chr1: 39,315,670-39,315,678 RRAGC
    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
    nsv4594501copy number variation1nstd183human GRCh37 chr1: 39,317,590-39,325,279 , GRCh38.p12 chr1: 38,851,918-38,859,607 RRAGC
    nsv4564325mobile element insertion1nstd166human GRCh37.p13 chr1: 39,312,613-39,312,613 , GRCh38.p12 chr1: 38,846,941-38,846,941 RRAGC
    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
    nsv3969599insertion1nstd168human GRCh38 chr1: 38,829,881-38,868,482 , GRCh37.p13 chr1: 39,295,553-39,334,154 MYCBP, RRAGC, 1 more genes
    nsv3908335copy number variation1nstd102humanLikely benign GRCh37 chr1: 38,956,157-40,014,447 , GRCh38 chr1: 38,490,485-39,548,775 , NCBI36 chr1: 38,728,744-39,787,034 PPIEL, AKIRIN1, 21 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
    nsv3883019copy number variation1nstd102humanUncertain significance GRCh37 chr1: 39,094,582-39,794,108 , GRCh38.p12 chr1: 38,628,910-39,328,436 RHBDL2, LOC105378660, 15 more genes
    nsv3878135copy number variation1nstd102humanUncertain significance GRCh37 chr1: 33,241,563-46,663,513 , GRCh38.p12 chr1: 32,775,962-46,197,841 LINC02786, LOC105378678, 365 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 , MARK1, 4930 more genes
    nsv3527011copy number variation3nstd152human GRCh38 chr1: 38,841,589-38,841,790 , GRCh37.p13 chr1: 39,307,261-39,307,462 RRAGC
    nsv3215049insertion2nstd152human GRCh38 chr1: 38,823,959-38,868,482 , GRCh37.p13 chr1: 39,289,631-39,334,154 MYCBP, RRAGC, 1 more genes
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