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Items: 1 to 20 of 136

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5972422insertion1nstd209human GRCh38 chr11: 66,512,024-66,512,024 , GRCh37.p13 chr11: 66,279,495-66,279,495 BBS1
    nsv5672782copy number variation1nstd102humanPathogenic GRCh37 chr11: 66,278,111-66,299,528 , GRCh38.p12 chr11: 66,510,640-66,532,057 BBS1, ZDHHC24
    nsv5672709copy number variation1nstd102humanPathogenic GRCh37 chr11: 66,283,154-66,287,229 , GRCh38.p12 chr11: 66,515,683-66,519,758 BBS1, ZDHHC24
    nsv5672636copy number variation1nstd102humanPathogenic GRCh37 chr11: 66,296,758-66,307,295 , GRCh38.p12 chr11: 66,529,287-66,539,824 ZDHHC24, BBS1
    nsv5672559copy number variation1nstd102humanPathogenic GRCh37 chr11: 66,291,682-66,293,673 , GRCh38.p12 chr11: 66,524,211-66,526,202 BBS1, ZDHHC24
    nsv5672558copy number variation1nstd102humanPathogenic GRCh37 chr11: 66,288,721-66,293,683 , GRCh38.p12 chr11: 66,521,250-66,526,212 ZDHHC24, BBS1
    nsv5646699insertion1nstd207human GRCh38 chr11: 66,512,073-66,512,073 , GRCh37.p13 chr11: 66,279,544-66,279,544 BBS1
    nsv5543797insertion1nstd206human GRCh38 chr11: 66,511,954-66,512,004 , GRCh37.p13 chr11: 66,279,425-66,279,475 BBS1
    nsv5536264insertion1nstd206human GRCh38 chr11: 66,512,073-66,512,073 , GRCh37.p13 chr11: 66,279,544-66,279,544 BBS1
    nsv5380796copy number variation1nstd102humanPathogenic GRCh37 chr11: 11,835,569-118,373,112 , GRCh38.p12 chr11: 11,814,022-118,502,397 FAUP4, MMP7, 2031 more genes
    nsv5355306translocation1nstd200human GRCh38 chr11: 66,533,279-66,533,279 , GRCh38 chr20: 35,667,326-35,667,326 , GRCh37.p13 chr11: 66,300,750-66,300,750 , GRCh37.p13 chr20: 34,255,248-34,255,248 BBS1, NFS1, 1 more genes
    nsv5277798copy number variation1nstd204human GRCh38.p13 chr11: 65,676,501-66,823,500 , GRCh37.p13 chr11: 65,443,972-66,590,971 , BBS1, 68 more genes
    nsv5262105copy number variation1nstd204human GRCh38.p13 chr11: 66,460,101-66,518,100 , GRCh37.p13 chr11: 66,227,572-66,285,571 DPP3-DT, DPP3, 2 more genes
    nsv4979894copy number variation1nstd200human GRCh38 chr11: 66,524,127-66,528,046 , GRCh37.p13 chr11: 66,291,598-66,295,517 BBS1, ZDHHC24
    nsv4979893copy number variation1nstd200human GRCh38 chr11: 66,521,979-66,524,931 , GRCh37.p13 chr11: 66,289,450-66,292,402 ZDHHC24, BBS1
    nsv4979892copy number variation1nstd200human GRCh38 chr11: 66,518,712-66,522,260 , GRCh37.p13 chr11: 66,286,183-66,289,731 ZDHHC24, BBS1
    nsv4979891copy number variation1nstd200human GRCh38 chr11: 66,498,786-66,524,009 , GRCh37.p13 chr11: 66,266,257-66,291,480 ZDHHC24, DPP3, 1 more genes
    nsv4847485copy number variation1nstd200human GRCh37 chr11: 66,291,598-66,295,517 , GRCh38.p12 chr11: 66,524,127-66,528,046 BBS1, ZDHHC24
    nsv4751865inversion1nstd199human GRCh37 chr11: 1,620,303-71,272,233 , GRCh38.p12 chr11: 1,599,073-71,561,187 , ACP2, 1686 more genes
    nsv4741272copy number variation1nstd199human GRCh37 chr11: 3,487,146-67,605,076 , GRCh38.p12 chr11: 3,465,916-67,837,605 , DRAP1, 1535 more genes
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