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Items: 1 to 20 of 112

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4903371copy number variation1nstd200human GRCh38 chr1: 37,745,813-38,046,236 , GRCh37.p13 chr1: 38,211,485-38,511,908 FHL3, YRDC, 15 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
    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
    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
    nsv3886123copy number variation1nstd102humanLikely benign GRCh37 chr1: 37,766,562-38,727,114 , GRCh38.p12 chr1: 37,300,961-38,261,442 FHL3, DNALI1, 36 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
    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
    nsv1490364short tandem repeat4nstd128human GRCh37 chr1: 38,512,304-38,512,334 , GRCh38.p12 chr1: 38,046,632-38,046,662 POU3F1
    nsv1490363short tandem repeat2nstd128human GRCh37 chr1: 38,511,903-38,511,917 , GRCh38.p12 chr1: 38,046,231-38,046,245 POU3F1
    nsv1429976short tandem repeat1nstd128human GRCh37 chr1: 38,512,087-38,512,101 , GRCh38.p12 chr1: 38,046,415-38,046,429 POU3F1
    nsv1429975short tandem repeat1nstd128human GRCh37 chr1: 38,511,084-38,511,101 , GRCh38.p12 chr1: 38,045,412-38,045,429 POU3F1
    nsv1429974short tandem repeat7nstd128human GRCh37 chr1: 38,510,268-38,510,295 , GRCh38.p12 chr1: 38,044,596-38,044,623 POU3F1
    nsv1429752short tandem repeat1nstd128human GRCh37 chr1: 38,512,432-38,512,451 , GRCh38.p12 chr1: 38,046,760-38,046,779 POU3F1
    nsv1429751short tandem repeat1nstd128human GRCh37 chr1: 38,507,679-38,507,693 , GRCh38.p12 chr1: 38,042,007-38,042,021 POU3F1
    nsv1429750short tandem repeat3nstd128human GRCh37 chr1: 38,507,538-38,507,548 , GRCh38.p12 chr1: 38,041,866-38,041,876 POU3F1
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