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Items: 1 to 20 of 362

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv3918744copy number variation1nstd102humanUncertain significance NCBI36 chr8: 36,346,915-36,586,036 , GRCh37.p13 chr8: 36,227,363-36,466,878 , GRCh38.p12 chr8: 36,369,845-36,609,360 RPL23P10
    nsv3874852copy number variation1nstd102humanUncertain significance GRCh38 chr10: 33,846,064-33,943,640 , GRCh37 chr10: 34,134,992-34,232,568 RPL23P11
    nsv3888938copy number variation2nstd102humanPathogenic GRCh38 chr11: 1,999,616-2,004,919 , GRCh37.p13 chr11: 2,020,846-2,026,149 H19, MRPL23
    nsv3917125copy number variation1nstd102humanPathogenic GRCh37 chr11: 2,022,018-2,023,452 , GRCh38 chr11: 2,000,788-2,002,222 MRPL23, H19
    nsv6314539complex chromosomal rearrangement5nstd102humanLikely pathogenic GRCh37 chr11: 1,915,057-1,915,057 , GRCh37 chr11: 1,915,843-1,915,843 , GRCh37 chr11: 1,936,668-1,936,668 , GRCh37 chr11: 1,936,993-1,936,993 , GRCh37 chr11: 1,960,727-1,960,727 , GRCh37 chr11: 1,961,361-1,961,361 , GRCh37 chr11: 1,984,895-1,984,895 , GRCh37 chr11: 1,985,019-1,985,019 , GRCh38.p12 chr11: 1,893,827-1,893,827 , GRCh38.p12 chr11: 1,894,613-1,894,613 , GRCh38.p12 chr11: 1,963,665-1,963,665 , GRCh38.p12 chr11: 1,963,789-1,963,789 , GRCh38.p12 chr11: 1,915,438-1,915,438 , GRCh38.p12 chr11: 1,915,763-1,915,763 , GRCh38.p12 chr11: 1,939,497-1,939,497 , GRCh38.p12 chr11: 1,940,131-1,940,131 , GRCh38.p12 chr2: 69,361,132-69,361,132 , GRCh38.p12 chr2: 69,361,288-69,361,288 , GRCh37 chr2: 69,588,264-69,588,264 , GRCh37 chr2: 69,588,420-69,588,420 GFPT1, MRPL23
    nsv4728392copy number variation1nstd102humanLikely benign GRCh37 chr1: 79,113,712-79,189,810 , GRCh38.p12 chr1: 78,648,027-78,724,125 IFI44, RPL23P3
    nsv3916430copy number variation1nstd102humanBenign NCBI36 chr11: 1,976,257-1,977,123 , GRCh37 chr11: 2,019,681-2,020,547 , GRCh38 chr11: 1,998,451-1,999,317 MRPL23, H19
    nsv4457170copy number variation1nstd102humanUncertain significance GRCh37 chr7: 26,276,080-26,407,744 , GRCh38.p12 chr7: 26,236,460-26,368,124 SNX10, RPL23P7
    nsv6314767delins1nstd102humanUncertain significance GRCh37.p13 chr7: 26,303,259-26,375,271 , GRCh38 chr7: 26,263,639-26,335,651 SNX10, RPL23P7
    nsv6637463copy number variation1nstd102humanPathogenic GRCh37 chr11: 1,980,946-2,054,887 , GRCh38.p12 chr11: 1,959,716-2,033,657 MIR675, MRPL23, 3 more genes
    nsv3903833copy number variation1nstd102humanPathogenic NCBI36 chr2: 221,410,796-222,200,580 , GRCh37 chr2: 221,702,552-222,492,336 , GRCh38 chr2: 220,837,832-221,627,616 EPHA4, RPL23P5, 3 more genes
    nsv3886118copy number variation1nstd102humanBenign GRCh37 chr1: 78,887,208-79,188,388 , GRCh38.p12 chr1: 78,421,523-78,722,703 IFI44, RPL23P3, 2 more genes
    nsv3893296copy number variation1nstd102humanLikely benign NCBI36 chr2: 221,960,583-222,172,307 , GRCh37 chr2: 222,252,339-222,464,063 , GRCh38 chr2: 221,387,619-221,599,343 LOC105373897, TMEM256P2, 2 more genes
    nsv3923626copy number variation1nstd102humanBenign GRCh37 chr11: 2,016,675-2,016,841 , NCBI36 chr11: 1,973,251-1,973,417 , GRCh38 chr11: 1,995,445-1,995,611 MIR675, H19, 1 more genes
    nsv3893293copy number variation1nstd102humanBenign/Likely benign GRCh37 chr18: 47,015,598-47,015,679 , GRCh38.p12 chr18: 49,489,228-49,489,309 RPL17, SNORD58A, 2 more genes
    nsv3905260copy number variation1nstd102humanBenign GRCh37 chr18: 47,015,598-47,015,643 , GRCh38.p12 chr18: 49,489,228-49,489,273 RPL17, SNORD58C, 1 more genes
    nsv3887186copy number variation1nstd102humanUncertain significance GRCh37 chr1: 78,889,336-79,190,906 , GRCh38.p12 chr1: 78,423,651-78,725,221 IFI44, IFI44L, 2 more genes
    nsv3912031copy number variation1nstd102humanUncertain significance NCBI36 chr7: 20,739,601-20,960,226 , GRCh38 chr7: 20,733,453-20,954,082 , GRCh37 chr7: 20,773,076-20,993,701 LINC01162, ABCB5, 3 more genes
    nsv6314212copy number variation1nstd102humanUncertain significance GRCh37 chr21: 30,339,313-30,399,972 , GRCh38.p12 chr21: 28,966,991-29,027,651 LTN1, USP16, 3 more genes
    nsv3893759copy number variation1nstd102humanUncertain significance GRCh37 chr11: 2,011,731-2,059,924 , GRCh38.p12 chr11: 1,990,501-2,038,694 MRPL23, MIR675, 2 more genes
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