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Items: 1 to 20 of 187

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7146909copy number variation1nstd232human GRCh37.p13 chr16: 56,539,948-56,540,030 , GRCh38.p12 chr16: 56,506,036-56,506,118 BBS2
    nsv7144248insertion1nstd232human GRCh37.p13 chr16: 56,552,683-56,552,683 , GRCh38.p12 chr16: 56,518,771-56,518,771 BBS2
    nsv7095031copy number variation2nstd102humanPathogenic GRCh37 chr16: 56,226,148-58,768,132 , GRCh38.p12 chr16: 56,192,236-58,734,228 MT1B, LOC105371293, 92 more genes
    nsv7094678copy number variation1nstd102humanPathogenic GRCh37 chr16: 56,545,061-56,545,206 , GRCh38.p12 chr16: 56,511,149-56,511,294 BBS2
    nsv7094587copy number variation1nstd102humanPathogenic GRCh37 chr16: 56,544,751-56,545,216 , GRCh38.p12 chr16: 56,510,839-56,511,304 BBS2
    nsv7068141inversion1nstd229human GRCh38 chr16: 56,038,949-56,473,255 , GRCh37.p13 chr16: 56,072,861-56,507,167 AMFR, GNAO1-DT, 9 more genes
    nsv7063904inversion1nstd229human GRCh38 chr16: 54,352,554-57,044,545 , GRCh37.p13 chr16: 54,386,466-57,078,457 LOC102725116, OGFOD1, 65 more genes
    nsv7060902inversion1nstd229human GRCh38 chr16: 56,473,236-56,531,331 , GRCh37.p13 chr16: 56,507,148-56,565,243 BBS2, LOC105371283, 1 more genes
    nsv6995406copy number variation1nstd229human GRCh38 chr16: 56,474,574-56,481,297 , GRCh37.p13 chr16: 56,508,486-56,515,209 BBS2, OGFOD1
    nsv6983972copy number variation1nstd229human GRCh38 chr16: 56,486,692-56,490,025 , GRCh37.p13 chr16: 56,520,604-56,523,937 BBS2
    nsv6983663copy number variation1nstd229human GRCh38 chr16: 56,512,531-56,546,104 , GRCh37.p13 chr16: 56,546,443-56,580,016 LOC105371283, BBS2
    nsv6979886copy number variation1nstd229human GRCh38 chr16: 56,486,101-56,499,100 , GRCh37.p13 chr16: 56,520,013-56,533,012 BBS2
    nsv6637586copy number variation1nstd102humanPathogenic GRCh37 chr16: 46,503,573-62,203,182 , GRCh38.p12 chr16: 46,469,661-62,169,278 LINC02140, LOC100130602, 279 more genes
    nsv6578860inversion1nstd223human GRCh38 chr16: 56,467,692-56,468,590 , GRCh37.p13 chr16: 56,501,604-56,502,502 BBS2, OGFOD1
    nsv6515292copy number variation1nstd223human GRCh38 chr16: 56,474,066-56,474,472 , GRCh37.p13 chr16: 56,507,978-56,508,384 OGFOD1, BBS2
    nsv6514641copy number variation1nstd223human GRCh38 chr16: 56,507,901-56,509,400 , GRCh37.p13 chr16: 56,541,813-56,543,312 BBS2
    nsv6505349copy number variation1nstd223human GRCh38 chr16: 56,494,823-56,501,098 , GRCh37.p13 chr16: 56,528,735-56,535,010 BBS2
    nsv6315060copy number variation1nstd102humanPathogenic GRCh38 chr16: 53,818,483-57,631,312 , GRCh37.p13 chr16: 53,852,395-57,665,224 LOC105371283, MT1A, 91 more genes
    nsv6314755copy number variation1nstd102humanPathogenic GRCh37 chr16: 46,503,968-90,155,062 , GRCh38.p12 chr16: 46,470,056-90,088,654 ATMIN, ATP6V0D1, 826 more genes
    nsv6314141copy number variation1nstd102humanUncertain significance GRCh37 chr16: 56,521,157-56,554,379 , GRCh38.p12 chr16: 56,487,245-56,520,467 BBS2
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