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Items: 13

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    Number of Variants: 13

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv4768338copy number variation1nstd102humanPathogenic GRCh37 chr1: 53,675,707-66,644,963 , GRCh38.p12 chr1: 53,210,035-66,179,280 TALDO1P1, LAMTOR5P1, 201 more genes
    nsv3895522copy number variation1nstd102humanPathogenic GRCh37 chr1: 54,092,945-64,714,537 , GRCh38 chr1: 53,627,272-64,248,854 , NCBI36 chr1: 53,865,533-64,487,125 FGGY, L1TD1, 159 more genes
    nsv3893402copy number variation1nstd102humanPathogenic GRCh38 chr1: 53,738,212-61,439,648 , NCBI36 chr1: 53,976,473-61,677,908 , GRCh37 chr1: 54,203,885-61,905,320 LOC105378748, RPS26P15, 107 more genes
    nsv5381135copy number variation1nstd102humanPathogenic GRCh37 chr1: 51,941,877-56,688,514 , GRCh38.p12 chr1: 51,476,205-56,222,842 LRP8-DT, LRRC42, 122 more genes
    nsv3871136copy number variation1nstd102humanPathogenic GRCh37 chr1: 51,729,573-55,164,001 , GRCh38.p12 chr1: 51,263,901-54,698,328 MROH7, LOC105378726, 100 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 MARK1, LINC02766, 4930 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 SNAP47, STK40, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 RNU1-153P, MIR3917, 4887 more genes
    nsv3896927copy number variation1nstd102humanPathogenic GRCh37 chr1: 53,061,024-77,233,450 , GRCh38 chr1: 52,595,352-76,767,765 , NCBI36 chr1: 52,833,612-77,006,038 DNAI4, LOC105378770, 346 more genes
    nsv3899721copy number variation1nstd102humanLikely pathogenic NCBI36 chr1: 53,025,763-67,578,144 , GRCh37 chr1: 53,253,175-67,805,556 , GRCh38 chr1: 52,787,503-67,339,873 AK4, C8A, 230 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
    nsv4453879copy number variation1nstd102humanUncertain significance GRCh37 chr1: 54,002,963-54,575,440 , GRCh38.p12 chr1: 53,537,290-54,109,767 MIR4781, DIO1, 12 more genes
    nsv3907097copy number variation1nstd102humanUncertain significance GRCh37 chr1: 54,289,408-54,793,786 , GRCh38 chr1: 53,823,735-54,328,113 , NCBI36 chr1: 54,061,996-54,566,374 RPL37P7, COX7BP3, 15 more genes
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