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Items: 1 to 20 of 136

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4889990copy number variation1nstd200human GRCh38 chr1: 46,538,221-46,605,477 , GRCh37.p13 chr1: 47,003,893-47,071,149 MKNK1, MKNK1-AS1, 1 more genes
    nsv4773401copy number variation1nstd200human GRCh37 chr1: 47,003,893-47,071,149 , GRCh38.p12 chr1: 46,538,221-46,605,477 MKNK1, KNCN, 1 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
    nsv4674754copy number variation1nstd102humanUncertain significance GRCh37 chr1: 46,880,370-47,015,073 , GRCh38.p12 chr1: 46,414,698-46,549,401 KNCN, MKNK1-AS1, 4 more genes
    nsv4674638copy number variation1nstd102humanUncertain significance GRCh37 chr1: 46,768,408-47,174,149 , GRCh38.p12 chr1: 46,302,736-46,708,477 UQCRH, MKNK1-AS1, 17 more genes
    nsv4581137copy number variation1nstd183human GRCh37 chr1: 47,007,844-47,069,845 , GRCh38.p12 chr1: 46,542,172-46,604,173 MKNK1, KNCN, 1 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
    nsv4051996copy number variation1nstd166human GRCh37.p13 chr1: 47,015,372-47,015,504 , GRCh38.p12 chr1: 46,549,700-46,549,832 MKNK1-AS1, KNCN
    nsv3889597copy number variation1nstd102humanUncertain significance GRCh37 chr1: 46,372,688-47,188,150 , GRCh38.p12 chr1: 45,907,016-46,722,478 NENFP1, EFCAB14, 27 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
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 , SNAP47, 4927 more genes
    nsv3884951copy number variation1nstd102humanUncertain significance GRCh37 chr1: 46,747,177-47,280,720 , GRCh38.p12 chr1: 46,281,505-46,815,048 ATPAF1, MKNK1, 19 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
    nsv3882928copy number variation1nstd102humanUncertain significance GRCh37 chr1: 46,541,307-47,088,882 , GRCh38.p12 chr1: 46,075,635-46,623,210 PIK3R3, TSPAN1, 19 more genes
    nsv3880420copy number variation1nstd102humanUncertain significance GRCh37 chr1: 47,010,907-47,068,904 , GRCh38.p12 chr1: 46,545,235-46,603,232 MKNK1, MKNK1-AS1, 1 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
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