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Items: 1 to 20 of 127

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5875849copy number variation1nstd209human GRCh38 chr1: 44,720,074-44,720,913 , GRCh37.p13 chr1: 45,185,746-45,186,585 RNU5F-1, ARMH1, 1 more genes
    nsv5425756copy number variation1nstd206human GRCh38 chr1: 44,718,980-44,720,121 , GRCh37.p13 chr1: 45,184,652-45,185,793 LOC105378690, RNU5F-1, 1 more genes
    nsv5419641copy number variation1nstd206human GRCh38 chr1: 44,683,179-44,721,880 , GRCh37.p13 chr1: 45,148,851-45,187,552 RNU5F-1, LOC105378690, 1 more genes
    nsv4906247copy number variation1nstd200human GRCh38 chr1: 44,718,980-44,720,169 , GRCh37.p13 chr1: 45,184,652-45,185,841 RNU5F-1, ARMH1, 1 more genes
    nsv4906246copy number variation1nstd200human GRCh38 chr1: 44,709,502-44,720,062 , GRCh37.p13 chr1: 45,175,174-45,185,734 LOC105378690, ARMH1, 1 more genes
    nsv4903421copy number variation1nstd200human GRCh38 chr1: 44,702,442-44,765,978 , GRCh37.p13 chr1: 45,168,114-45,231,650 KIF2C, LOC105378690, 4 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
    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
    nsv4674295copy number variation1nstd102humanUncertain significance GRCh37 chr1: 44,424,878-45,207,102 , GRCh38.p12 chr1: 43,959,206-44,741,430 RNU5D-1, ATP6V0B, 28 more genes
    nsv4674119copy number variation1nstd102humanUncertain significance GRCh37 chr1: 44,810,778-45,216,633 , GRCh38.p12 chr1: 44,345,106-44,750,961 RNU5F-1, MIR5584, 10 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
    nsv3965561copy number variation1nstd168human GRCh38 chr1: 44,655,066-44,767,132 , GRCh37.p13 chr1: 45,120,738-45,232,804 KIF2C, RNU5F-1, 6 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
    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
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