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Items: 1 to 20 of 244

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7140411copy number variation1nstd232human GRCh37.p13 chr20: 30,059,114-30,059,260 , GRCh38.p12 chr20: 31,471,311-31,471,457 DEFB124
    nsv7070579inversion1nstd229human GRCh38 chr20: 31,437,991-31,467,036 , GRCh37.p13 chr20: 30,025,794-30,054,839 DEFB124, DEFB123
    nsv7070559inversion1nstd229human GRCh38 chr20: 31,426,398-31,479,070 , GRCh37.p13 chr20: 30,014,201-30,066,873 DEFB122, REM1, 2 more genes
    nsv7059980inversion1nstd229human GRCh38 chr20: 30,656,049-33,860,963 , GRCh37.p13 chr20: 29,803,910-32,448,769 NECAB3, EFCAB8, 98 more genes
    nsv7037901copy number variation1nstd229human GRCh38 chr20: 31,423,301-31,739,500 , GRCh37.p13 chr20: 30,011,104-30,327,303 BCL2L1, DEFB123, 18 more genes
    nsv7036938copy number variation1nstd229human GRCh38 chr20: 31,459,738-31,468,765 , GRCh37.p13 chr20: 30,047,541-30,056,568 DEFB124
    nsv7034797copy number variation1nstd229human GRCh38 chr20: 31,452,301-31,464,400 , GRCh37.p13 chr20: 30,040,104-30,052,203 DEFB124
    nsv7032945copy number variation1nstd229human GRCh38 chr20: 31,283,144-31,615,397 , GRCh37.p13 chr20: 29,870,947-30,203,200 HM13-AS1, DEFB119, 22 more genes
    nsv7032549copy number variation1nstd229human GRCh38 chr20: 31,308,013-31,715,090 , GRCh37.p13 chr20: 29,895,816-30,302,893 TRS-AGA7-1, ID1, 24 more genes
    nsv7025136copy number variation1nstd229human GRCh38 chr20: 31,456,221-31,905,173 , GRCh37.p13 chr20: 30,044,024-30,492,976 COX4I2, CD24P3, 21 more genes
    nsv7024687copy number variation1nstd229human GRCh38 chr20: 31,439,651-31,493,591 , GRCh37.p13 chr20: 30,027,454-30,081,394 DEFB124, DEFB123, 2 more genes
    nsv6637725copy number variation1nstd102humanLikely pathogenic GRCh37 chr20: 29,833,535-34,815,537 , GRCh38.p12 chr20: 31,245,732-36,227,615 AHCY, ASIP, 160 more genes
    nsv6637546copy number variation1nstd102humanLikely pathogenic GRCh37 chr20: 29,652,122-35,603,726 , GRCh38.p12 chr20: 30,417,446-36,975,323 AHCY, ASIP, 195 more genes
    nsv6626562copy number variation1nstd224human GRCh37 chr20: 29,811,475-30,242,490 , GRCh38.p12 chr20: 31,223,672-31,654,687 CD24P3, DKKL1P1, 25 more genes
    nsv6626339copy number variation2nstd224human GRCh37 chr20: 29,833,609-30,070,197 , GRCh38.p12 chr20: 31,245,806-31,482,394 REM1, DEFB118, 13 more genes
    nsv6533066copy number variation1nstd223human GRCh38 chr20: 31,459,201-31,468,800 , GRCh37.p13 chr20: 30,047,004-30,056,603 DEFB124
    nsv6313956copy number variation1nstd102humanPathogenic GRCh37 chr20: 25,442,597-33,761,550 , GRCh38.p12 chr20: 25,461,961-35,173,747 LOC105372586, RNU6-384P, 193 more genes
    nsv6291672copy number variation1nstd102humanLikely benign GRCh37 chr20: 29,652,122-30,272,637 , GRCh38.p12 chr20: 30,417,446-31,684,834 DEFB124, LOC105379481, 47 more genes
    nsv6291590copy number variation1nstd102humanLikely benign GRCh37 chr20: 29,652,122-30,518,304 , GRCh38.p12 chr20: 30,417,446-31,930,501 CDC27P4, DEFB122, 54 more genes
    nsv6291578copy number variation1nstd102humanLikely pathogenic GRCh37 chr20: 18,665,879-33,903,216 , GRCh38.p12 chr20: 18,685,235-35,315,413 AHCY, ASIP, 330 more genes
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