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Items: 1 to 20 of 164

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5872295copy number variation1nstd209human GRCh38 chr1: 158,292,139-158,301,453 , GRCh37.p13 chr1: 158,261,929-158,271,243 CD1B, CD1C
    nsv5828169copy number variation1nstd209human GRCh38 chr1: 158,315,792-158,317,271 , GRCh37.p13 chr1: 158,285,582-158,287,061 CD1B
    nsv5828168copy number variation1nstd209human GRCh38 chr1: 158,292,101-158,301,504 , GRCh37.p13 chr1: 158,261,891-158,271,294 CD1C, CD1B
    nsv5607982insertion1nstd207human GRCh38 chr1: 158,315,726-158,315,726 , GRCh37.p13 chr1: 158,285,516-158,285,516 CD1B
    nsv5425810copy number variation1nstd206human GRCh38 chr1: 158,290,137-158,290,843 , GRCh37.p13 chr1: 158,259,927-158,260,633 CD1B, CD1C
    nsv5381285copy number variation2nstd102humanUncertain significance GRCh37 chr1: 130,980,840-248,900,000 , GRCh38.p12 chr1: 120,324,463-248,736,699 , DCST1, 2428 more genes
    nsv4897657copy number variation1nstd200human GRCh38 chr1: 158,331,150-158,334,414 , GRCh37.p13 chr1: 158,300,940-158,304,204 CD1B
    nsv4897656copy number variation1nstd200human GRCh38 chr1: 158,325,068-158,327,482 , GRCh37.p13 chr1: 158,294,858-158,297,272 CD1B
    nsv4897655copy number variation1nstd200human GRCh38 chr1: 158,296,292-158,310,790 , GRCh37.p13 chr1: 158,266,082-158,280,580 CD1B
    nsv4897654copy number variation1nstd200human GRCh38 chr1: 158,286,202-158,286,368 , GRCh37.p13 chr1: 158,255,992-158,256,158 CD1B
    nsv4897647copy number variation1nstd200human GRCh38 chr1: 158,049,908-158,397,355 , GRCh37.p13 chr1: 158,019,698-158,367,145 CD1B, CD1E, 10 more genes
    nsv4784385copy number variation1nstd200human GRCh37 chr1: 158,294,858-158,297,272 , GRCh38.p12 chr1: 158,325,068-158,327,482 CD1B
    nsv4767860inversion1nstd199human GRCh37 chr1: 17,051,740-234,912,187 , GRCh38.p12 chr1: 16,725,245-234,776,440 , ABCA4, 4269 more genes
    nsv4751400inversion1nstd199human GRCh37 chr1: 17,125,657-234,919,132 , GRCh38.p12 chr1: 16,799,162-234,783,385 , ABCA4, 4264 more genes
    nsv4450412copy number variation1nstd102humanPathogenic GRCh37 chr1: 157,321,299-167,391,423 , GRCh38.p12 chr1: 157,351,509-167,422,186 FCGR3B, SLAMF9, 302 more genes
    nsv4385444copy number variation1nstd173human GRCh37 chr1: 158,214,469-159,706,408 , GRCh38.p12 chr1: 158,244,679-159,736,618 , RAD1P2, 60 more genes
    nsv4327204inversion1nstd166human GRCh37.p13 chr1: 156,223,026-186,411,081 , GRCh38.p12 chr1: 156,253,235-186,441,949 , FASLG, 707 more genes
    nsv4071985copy number variation1nstd166human GRCh37.p13 chr1: 158,261,929-158,271,244 , GRCh38.p12 chr1: 158,292,139-158,301,454 CD1B, CD1C
    nsv4055766copy number variation1nstd166human GRCh37.p13 chr1: 158,294,858-158,297,272 , GRCh38.p12 chr1: 158,325,068-158,327,482 CD1B
    nsv4055233copy number variation1nstd166human GRCh37.p13 chr1: 158,273,838-158,273,960 , GRCh38.p12 chr1: 158,304,048-158,304,170 CD1B
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