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Items: 18

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    Number of Variants: 18

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3889825copy number variation1nstd102humanBenign GRCh37 chr1: 55,301,220-55,306,618 , GRCh38.p12 chr1: 54,835,547-54,840,945 CIMAP2
    nsv7095996copy number variation1nstd102humanUncertain significance GRCh37 chr1: 55,223,407-55,352,792 , GRCh38.p12 chr1: 54,757,734-54,887,119 CIMAP2, DHCR24, 3 more genes
    nsv4768338copy number variation1nstd102humanPathogenic GRCh37 chr1: 53,675,707-66,644,963 , GRCh38.p12 chr1: 53,210,035-66,179,280 CIMAP2, TALDO1P1, 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 CIMAP2, FGGY, 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 CIMAP2, LOC105378748, 107 more genes
    nsv5381135copy number variation1nstd102humanPathogenic GRCh37 chr1: 51,941,877-56,688,514 , GRCh38.p12 chr1: 51,476,205-56,222,842 CIMAP2, LRP8-DT, 122 more genes
    nsv3877365copy number variation1nstd102humanPathogenic GRCh37 chr1: 47,851-249,228,449 , GRCh38.p12 chr1: 47,851-248,934,250 CIMAP2, MARK1, 4930 more genes
    nsv3885206copy number variation1nstd102humanPathogenic GRCh37 chr1: 82,154-249,218,992 , GRCh38.p12 chr1: 82,154-248,924,793 CIMAP2, SNAP47, 4927 more genes
    nsv3884414copy number variation2nstd102humanPathogenic GRCh37 chr1: 849,467-249,224,684 , GRCh38.p12 chr1: 914,087-248,930,485 CIMAP2, RNU1-153P, 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 CIMAP2, DNAI4, 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 CIMAP2, AK4, 230 more genes
    nsv3885555copy number variation1nstd102humanLikely benign GRCh37 chr1: 55,038,842-55,347,867 , GRCh38.p12 chr1: 54,573,169-54,882,194 CIMAP2, DHCR24, 7 more genes
    nsv4728685copy number variation1nstd102humanLikely benign GRCh37 chr1: 55,036,105-55,274,639 , GRCh38.p12 chr1: 54,570,432-54,808,966 CIMAP2, TTC22, 6 more genes
    nsv4728137copy number variation1nstd102humanLikely benign GRCh37 chr1: 55,090,187-55,313,988 , GRCh38.p12 chr1: 54,624,514-54,848,315 CIMAP2, MROH7, 6 more genes
    nsv3872198copy number variation1nstd102humanUncertain significance GRCh37 chr1: 54,575,439-55,381,546 , GRCh38.p12 chr1: 54,109,766-54,915,873 CIMAP2, CDCP2, 18 more genes
    nsv3911848copy number variation1nstd102humanUncertain significance NCBI36 chr1: 54,861,929-55,072,620 , GRCh37.p13 chr1: 55,089,341-55,300,032 , GRCh38.p12 chr1: 54,623,668-54,834,359 CIMAP2, MROH7-TTC4, 6 more genes
    nsv4436181copy number variation1nstd102humanUncertain significance GRCh37 chr1: 10,333,430-103,467,088 , GRCh38.p12 chr1: 10,273,372-103,001,532 CIMAP2, LINC01776, 1853 more genes
    nsv3874954copy number variation1nstd102humanUncertain significance GRCh37 chr1: 55,036,657-55,800,829 , GRCh38.p12 chr1: 54,570,984-55,335,156 CIMAP2, TRK-CTT7-1, 18 more genes
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