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Items: 1 to 20 of 151

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5210993copy number variation1nstd204human GRCh38.p13 chr1: 44,793,828-44,798,107 , GRCh37.p13 chr1: 45,259,500-45,263,779 PLK3
    nsv4906254copy number variation1nstd200human GRCh38 chr1: 44,792,422-44,798,261 , GRCh37.p13 chr1: 45,258,094-45,263,933 BEST4, PLK3
    nsv4773329copy number variation1nstd200human GRCh37 chr1: 45,258,102-45,263,933 , GRCh38.p12 chr1: 44,792,430-44,798,261 PLK3, BEST4
    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
    nsv4679182copy number variation1nstd189human GRCh37.p13 chr1: 44,966,524-45,765,102 , GRCh38.p12 chr1: 44,500,852-45,299,430 PLK3, RPS8, 32 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
    nsv4050814copy number variation1nstd166human GRCh37.p13 chr1: 44,473,602-45,303,007 , GRCh38.p12 chr1: 44,007,930-44,837,335 , LOC107984952, 38 more genes
    nsv3904737copy number variation1nstd102humanUncertain significance GRCh38 chr1: 44,713,837-45,282,899 , NCBI36 chr1: 44,952,096-45,521,158 , GRCh37 chr1: 45,179,509-45,748,571 LOC105378690, RPS15AP11, 26 more genes
    nsv3903595copy number variation1nstd102humanUncertain significance GRCh38 chr1: 43,896,056-44,867,736 , NCBI36 chr1: 44,134,315-45,105,995 , GRCh37 chr1: 44,361,728-45,333,408 SNORD145, DMAP1, 47 more genes
    nsv3889018copy number variation1nstd102humanBenign GRCh37 chr1: 45,237,119-45,287,094 , GRCh38.p12 chr1: 44,771,447-44,821,422 LOC107984952, SNORD38B, 11 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
    nsv3224159insertion1nstd152human GRCh38 chr1: 44,798,391-44,804,172 , GRCh37.p13 chr1: 45,264,063-45,269,844 DYNLT4, PLK3
    nsv3199867copy number variation1nstd152human GRCh38 chr1: 44,786,677-44,814,660 , GRCh37.p13 chr1: 45,252,349-45,280,332 PLK3, BTBD19, 2 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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