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Items: 1 to 20 of 125

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    Number of Variants: 20

    Variant Region IDTypeNumber of Variant CallsStudy IDOrganismClinical AssertionLocationGenes in region
    nsv5868585copy number variation1nstd209human GRCh38 chr22: 42,056,497-42,058,572 , GRCh37.p13 chr22: 42,452,501-42,454,576 WBP2NL, NAGA
    nsv5673276copy number variation1nstd102humanPathogenic GRCh37 chr22: 42,440,000-43,780,000 , GRCh38.p12 chr22: 42,043,996-43,383,994 RPL5P34, ARFGAP3, 48 more genes
    nsv5381149copy number variation1nstd102humanPathogenic GRCh37 chr22: 42,333,802-51,195,728 , GRCh38.p12 chr22: 41,937,798-50,757,300 WBP2NL, RN7SKP80, 210 more genes
    nsv5381088copy number variation1nstd102humanPathogenic GRCh37 chr22: 42,356,886-43,684,002 , GRCh38.p12 chr22: 41,960,882-43,287,996 CYP2D8P, SCUBE1, 49 more genes
    nsv5294163copy number variation1nstd204human GRCh38.p13 chr22: 41,962,701-42,147,200 , GRCh37.p13 chr22: 42,358,705-42,518,516 , SNORD13P1, 15 more genes
    nsv5040172copy number variation1nstd200human GRCh38 chr22: 42,063,943-42,069,649 , GRCh37.p13 chr22: 42,459,947-42,465,653 LOC107985551, NAGA
    nsv5039372copy number variation1nstd200human GRCh38 chr22: 42,065,345-42,069,425 , GRCh37.p13 chr22: 42,461,349-42,465,429 NAGA, LOC107985551
    nsv5032425inversion1nstd200human GRCh38 chr22: 41,452,969-44,153,937 , GRCh37.p13 chr22: 41,848,973-44,549,817 , LOC101927393, 95 more genes
    nsv4874089copy number variation1nstd200human GRCh37 chr22: 42,459,910-42,465,640 , GRCh38.p12 chr22: 42,063,906-42,069,636 NAGA, LOC107985551
    nsv4873091copy number variation1nstd200human GRCh37 chr22: 42,461,349-42,465,429 , GRCh38.p12 chr22: 42,065,345-42,069,425 NAGA, LOC107985551
    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
    nsv4676232copy number variation1nstd102humanPathogenic GRCh37 chr22: 40,502,364-51,197,838 , GRCh38.p12 chr22: 40,106,360-50,759,410 MIR378I, SNORD13P1, 274 more genes
    nsv4630486copy number variation1nstd183human GRCh37 chr22: 42,277,420-42,625,797 , GRCh38.p12 chr22: 41,881,416-42,229,791 , SEPTIN3, 24 more genes
    nsv4627421copy number variation1nstd183human GRCh37 chr22: 42,461,637-42,464,736 , GRCh38.p12 chr22: 42,065,633-42,068,732 LOC107985551, NAGA
    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
    nsv4351202copy number variation1nstd102humanPathogenic GRCh37 chr22: 42,416,026-51,181,759 , GRCh38.p12 chr22: 42,020,022-50,743,331 PLXNB2, WBP2NL, 204 more genes
    nsv4292132copy number variation1nstd166human GRCh37.p13 chr22: 42,458,205-42,467,662 , GRCh38.p12 chr22: 42,062,201-42,071,658 NAGA, LOC107985551
    nsv4291425copy number variation1nstd166human GRCh37.p13 chr22: 42,461,349-42,465,429 , GRCh38.p12 chr22: 42,065,345-42,069,425 LOC107985551, NAGA
    nsv4287757copy number variation1nstd166human GRCh37.p13 chr22: 42,451,425-42,514,918 , GRCh38.p12 chr22: 42,055,421-42,118,914 , GRCh38.p12 chr22|NT_187682.1: 1-41,259 , GRCh38.p12 chr22|NW_003315971.2: 1-41,259 , GRCh38.p12 chr22|NW_004504305.1: 1-41,259 , GRCh38.p12 chr22|NW_009646207.1: 1-33,876 NAGA, NDUFA6, 7 more genes
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