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Items: 1 to 20 of 47

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7099032copy number variation1nstd102humanPathogenic GRCh37 chr15: 73,000,552-73,006,857 , GRCh38.p12 chr15: 72,708,211-72,714,516 BBS4
    nsv7093936copy number variation1nstd102humanPathogenic GRCh37 chr11: 66,278,131-66,283,424 , GRCh38.p12 chr11: 66,510,660-66,515,953 BBS1
    nsv4683098copy number variation1nstd102humanPathogenic GRCh37 chr11: 66,278,121-66,278,720 , GRCh38.p12 chr11: 66,510,650-66,511,249 BBS1
    nsv6309444copy number variation1nstd102humanUncertain significance GRCh37 chr11: 66,278,131-66,278,730 , GRCh38.p12 chr11: 66,510,660-66,511,259 BBS1
    nsv5672782copy number variation1nstd102humanPathogenic GRCh37 chr11: 66,278,111-66,299,528 , GRCh38.p12 chr11: 66,510,640-66,532,057 BBS1, ZDHHC24
    nsv6315097copy number variation1nstd102humanPathogenic GRCh37 chr11: 66,278,711-66,293,593 , GRCh38.p12 chr11: 66,511,240-66,526,122 BBS1, ZDHHC24
    nsv4681725copy number variation1nstd102humanPathogenic GRCh37 chr11: 66,278,121-66,291,682 , GRCh38.p12 chr11: 66,510,650-66,524,211 BBS1, ZDHHC24
    nsv4681123copy number variation1nstd102humanPathogenic GRCh37 chr11: 66,278,111-66,291,373 , GRCh38.p12 chr11: 66,510,640-66,523,902 BBS1, ZDHHC24
    nsv5672636copy number variation1nstd102humanPathogenic GRCh37 chr11: 66,296,758-66,307,295 , GRCh38.p12 chr11: 66,529,287-66,539,824 BBS1, ZDHHC24
    nsv3885918copy number variation1nstd102humanPathogenic GRCh38 chr11: 66,526,688-66,533,666 , GRCh37 chr11: 66,294,159-66,301,137 BBS1, ZDHHC24
    nsv6309124copy number variation1nstd102humanPathogenic GRCh37 chr11: 66,293,574-66,299,508 , GRCh38.p12 chr11: 66,526,103-66,532,037 BBS1, ZDHHC24
    nsv5672558copy number variation1nstd102humanPathogenic GRCh37 chr11: 66,288,721-66,293,683 , GRCh38.p12 chr11: 66,521,250-66,526,212 BBS1, ZDHHC24
    nsv7094179copy number variation1nstd102humanPathogenic GRCh37 chr11: 66,293,041-66,297,307 , GRCh38.p12 chr11: 66,525,570-66,529,836 BBS1, ZDHHC24
    nsv6309228copy number variation1nstd102humanPathogenic GRCh37 chr11: 66,283,001-66,287,229 , GRCh38.p12 chr11: 66,515,530-66,519,758 BBS1, ZDHHC24
    nsv5672709copy number variation1nstd102humanPathogenic GRCh37 chr11: 66,283,154-66,287,229 , GRCh38.p12 chr11: 66,515,683-66,519,758 BBS1, ZDHHC24
    nsv7093937copy number variation1nstd102humanPathogenic GRCh37 chr11: 66,287,078-66,291,105 , GRCh38.p12 chr11: 66,519,607-66,523,634 BBS1, ZDHHC24
    nsv4728634copy number variation1nstd102humanPathogenic GRCh37 chr11: 66,289,187-66,291,560 , GRCh38 chr11: 66,521,716-66,524,089 BBS1, ZDHHC24
    nsv4681554copy number variation1nstd102humanPathogenic GRCh37 chr11: 66,297,280-66,299,518 , GRCh38.p12 chr11: 66,529,809-66,532,047 BBS1, ZDHHC24
    nsv5672559copy number variation1nstd102humanPathogenic GRCh37 chr11: 66,291,682-66,293,673 , GRCh38.p12 chr11: 66,524,211-66,526,202 BBS1, ZDHHC24
    nsv4682487copy number variation1nstd102humanPathogenic GRCh37 chr11: 66,287,078-66,288,857 , GRCh38.p12 chr11: 66,519,607-66,521,386 BBS1, ZDHHC24
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