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Items: 1 to 20 of 119

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099199copy number variation1nstd231human GRCh38.p12 chr1: 47,175,123-48,269,119 , GRCh37 chr1: 47,640,795-48,734,791 FOXE3, FOXD2, 17 more genes
    nsv6650712copy number variation1nstd229human GRCh38 chr1: 47,407,616-47,438,434 , GRCh37.p13 chr1: 47,873,288-47,904,106 LINC01389, FOXD2, 2 more genes
    nsv6320974copy number variation1nstd223human GRCh38 chr1: 47,407,616-47,438,431 , GRCh37.p13 chr1: 47,873,288-47,904,103 FOXE3, FOXD2-AS1, 2 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
    nsv4674547copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,272,184-52,505,405 , GRCh38.p12 chr1: 46,806,512-52,039,733 RAB3B, RN7SL290P, 90 more genes
    nsv4581316copy number variation1nstd183human GRCh37 chr1: 47,884,229-48,109,225 , GRCh38.p12 chr1: 47,418,557-47,643,553 ATP6V0E1P4, FOXD2, 3 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
    nsv3888489copy number variation1nstd102humanLikely pathogenic GRCh37 chr1: 45,303,358-52,157,856 , GRCh38.p12 chr1: 44,837,686-51,692,184 CDKN2C, CYP4A11, 141 more genes
    nsv3886702copy number variation1nstd102humanLikely benign GRCh37 chr1: 47,899,684-47,905,928 , GRCh38.p12 chr1: 47,434,012-47,440,256 FOXD2, FOXD2-AS1, 1 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
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 , MARK1, 4930 more genes
    nsv3167791inversion1nstd158human GRCh37 chr1: 42,414,066-227,813,903 , GRCh38.p12 chr1: 41,948,395-227,626,202 , ABCA4, 3418 more genes
    nsv3132352copy number variation1nstd151human GRCh37 chr1: 46,093,925-48,918,808 , GRCh38.p12 chr1: 45,628,253-48,453,136 MAST2, CYP4A22, 72 more genes
    nsv3118361copy number variation1nstd149human GRCh37 chr1: 47,034,115-50,651,816 , GRCh38.p12 chr1: 46,568,443-50,186,144 CYP4A11, CYP4B1, 58 more genes
    nsv2768203copy-neutral loss of heterozygosity1nstd125human GRCh38.p12 chr1: 47,200,473-54,167,957 , GRCh37 chr1: 47,666,145-54,633,630 , CDKN2C, 147 more genes
    nsv2762099copy number variation1nstd130human GRCh37 chr1: 47,878,168-47,910,876 , GRCh38.p12 chr1: 47,412,496-47,445,204 FOXE3, LINC01389, 2 more genes
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