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Items: 1 to 20 of 89

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv7096310copy number variation1nstd102humanPathogenic GRCh37 chr22: 38,097,373-39,306,081 , GRCh38.p12 chr22: 37,701,366-38,910,076 TMEM184B, ANKRD54, 46 more genes
    nsv7096308copy number variation1nstd102humanUncertain significance GRCh37 chr22: 35,776,672-42,486,826 , GRCh38.p12 chr22: 35,380,679-42,090,822 CDC42EP1, SREBF2, 231 more genes
    nsv7095836copy number variation3nstd102humanUncertain significance, Pathogenic GRCh37 chr22: 37,154,355-39,148,633 , GRCh38.p12 chr22: 36,758,311-38,752,628 CSF2RBP1, H1-0, 80 more genes
    nsv7077764inversion1nstd229human GRCh38 chr22: 37,971,370-41,589,449 , GRCh37.p13 chr22: 38,367,377-41,985,453 UQCRFS1P1, LOC105373027, 119 more genes
    nsv7072766inversion1nstd229human GRCh38 chr22: 35,603,617-39,341,195 , GRCh37.p13 chr22: 35,999,664-39,737,200 APOL5, MTATP6P20, 132 more genes
    nsv7064066inversion1nstd229human GRCh38 chr22: 34,920,312-39,418,308 , GRCh37.p13 chr22: 35,316,302-39,814,313 LOC112268295, APOBEC3B-AS1, 150 more genes
    nsv7061959inversion1nstd229human GRCh38 chr22: 36,818,005-44,993,640 , GRCh37.p13 chr22: 37,214,049-45,389,520 SMIM45, A4GALT, 271 more genes
    nsv7059210inversion1nstd229human GRCh38 chr22: 35,603,611-39,337,136 , GRCh37.p13 chr22: 35,999,658-39,733,141 MTCO2P20, RPS29P31, 132 more genes
    nsv6546014copy number variation1nstd223human GRCh38 chr22: 38,685,756-38,691,122 , GRCh37.p13 chr22: 39,081,761-39,087,127 TOMM22, JOSD1
    nsv6134588copy number variation1nstd213human GRCh37 chr22: 38,630,000-39,360,001 , GRCh38.p12 chr22: 38,233,994-38,963,996 CSNK1E, KCNJ4, 24 more genes
    nsv6134213copy number variation1nstd213human GRCh37 chr22: 37,470,000-39,980,001 , GRCh38.p12 chr22: 37,073,960-39,583,996 ATF4, COX5BP7, 98 more genes
    nsv6134212copy number variation1nstd213human GRCh37 chr22: 36,430,000-39,960,001 , GRCh38.p12 chr22: 36,033,952-39,563,996 ATF4, COX5BP7, 133 more genes
    nsv5197210mobile element insertion1nstd203human GRCh38 chr22: 38,684,939-38,684,961 , GRCh37.p13 chr22: 39,080,944-39,080,966 TOMM22, JOSD1
    nsv4729926copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,197,005-51,224,252 , GRCh38.p12 chr22: 16,367,190-50,785,824 FBXO7, GTSE1, 1084 more genes
    nsv4676292copy number variation1nstd102humanPathogenic GRCh37 chr22: 30,654,764-51,197,838 , GRCh38.p12 chr22: 30,258,775-50,759,410 PDXP-DT, PDGFB, 550 more genes
    nsv4676191copy number variation1nstd102humanLikely pathogenic GRCh37 chr22: 38,431,917-39,392,250 , GRCh38.p12 chr22: 38,035,910-38,996,245 CSNK1E, KCNJ4, 35 more genes
    nsv4576407mobile element insertion1nstd166human GRCh37.p13 chr22: 39,080,944-39,080,944 , GRCh38.p12 chr22: 38,684,939-38,684,939 TOMM22, JOSD1
    nsv4457771copy number variation1nstd102humanPathogenic GRCh37 chr22: 16,888,899-51,197,838 , GRCh38.p12 chr22: 16,408,173-50,759,410 IGLV3-27, XKR3, 1082 more genes
    nsv4436801copy number variation1nstd102humanUncertain significance GRCh37 chr22: 38,838,246-39,260,032 , GRCh38.p12 chr22: 38,442,241-38,864,027 FAM227A, CBY1, 14 more genes
    nsv4383315copy number variation1nstd173human GRCh37 chr22: 39,054,090-39,164,951 , GRCh38.p12 chr22: 38,658,085-38,768,946 GTPBP1, JOSD1, 4 more genes
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