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Items: 1 to 20 of 313

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7145863copy number variation1nstd232human GRCh37.p13 chr2: 170,362,469-170,362,517 , GRCh38.p12 chr2: 169,505,959-169,506,007 BBS5
    nsv7098763copy number variation1nstd102humanPathogenic GRCh37 chr2: 170,333,792-170,339,709 , GRCh38 chr2: 169,477,282-169,483,199 BBS5
    nsv7096582copy number variation2nstd102humanUncertain significance GRCh37 chr2: 169,853,125-170,344,644 , GRCh38.p12 chr2: 168,996,615-169,488,134 DHRS9, ABCB11, 3 more genes
    nsv7096383copy number variation1nstd102humanUncertain significance GRCh37 chr2: 170,344,296-170,382,206 , GRCh38.p12 chr2: 169,487,786-169,525,696 KLHL41, BBS5
    nsv7096104copy number variation1nstd102humanPathogenic GRCh37 chr2: 170,349,364-170,350,366 , GRCh38.p12 chr2: 169,492,854-169,493,856 BBS5
    nsv7039078inversion1nstd229human GRCh38 chr2: 169,426,957-169,535,163 , GRCh37.p13 chr2: 170,283,467-170,391,673 KLHL41, FASTKD1, 1 more genes
    nsv6694682copy number variation1nstd229human GRCh38 chr2: 169,477,191-169,479,984 , GRCh37.p13 chr2: 170,333,701-170,336,494 BBS5
    nsv6693819copy number variation1nstd229human GRCh38 chr2: 169,477,201-169,480,000 , GRCh37.p13 chr2: 170,333,711-170,336,510 BBS5
    nsv6691689copy number variation1nstd229human GRCh38 chr2: 169,477,281-169,483,199 , GRCh37.p13 chr2: 170,333,791-170,339,709 BBS5
    nsv6688920copy number variation1nstd229human GRCh38 chr2: 169,484,989-169,485,323 , GRCh37.p13 chr2: 170,341,499-170,341,833 BBS5
    nsv6687338copy number variation1nstd229human GRCh38 chr2: 169,449,001-169,630,700 , GRCh37.p13 chr2: 170,305,511-170,487,210 KLHL41, BBS5, 2 more genes
    nsv6685937copy number variation1nstd229human GRCh38 chr2: 169,420,757-170,042,345 , GRCh37.p13 chr2: 170,277,267-170,898,855 PHOSPHO2-KLHL23, LOC100421474, 14 more genes
    nsv6678900copy number variation1nstd229human GRCh38 chr2: 168,515,191-170,305,528 , GRCh37.p13 chr2: 169,371,701-171,162,038 METTL5, FASTKD1, 28 more genes
    nsv6549077inversion1nstd223human GRCh38 chr2: 169,491,839-169,492,322 , GRCh37.p13 chr2: 170,348,349-170,348,832 BBS5
    nsv6546015inversion1nstd223human GRCh38 chr2: 169,489,421-169,489,941 , GRCh37.p13 chr2: 170,345,931-170,346,451 BBS5
    nsv6538546inversion1nstd223human GRCh38 chr2: 169,465,382-169,657,943 , GRCh37.p13 chr2: 170,321,892-170,514,453 PPIG, KLHL41, 4 more genes
    nsv6355457copy number variation1nstd223human GRCh38 chr2: 169,503,801-169,509,300 , GRCh37.p13 chr2: 170,360,311-170,365,810 KLHL41, BBS5
    nsv6351038copy number variation1nstd223human GRCh38 chr2: 169,420,756-170,042,343 , GRCh37.p13 chr2: 170,277,266-170,898,853 LOC100421474, PHOSPHO2-KLHL23, 14 more genes
    nsv6347624copy number variation1nstd223human GRCh38 chr2: 169,495,301-169,499,600 , GRCh37.p13 chr2: 170,351,811-170,356,110 BBS5
    nsv6345436copy number variation1nstd223human GRCh38 chr2: 169,484,807-169,485,509 , GRCh37.p13 chr2: 170,341,317-170,342,019 BBS5
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