A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520582



Internal ID15101189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23579240..23638681hg38UCSC Ensembl
Innerchr22:23921427..23980868hg19UCSC Ensembl
Innerchr22:22251427..22310868hg18UCSC Ensembl
Innerchr22:22245981..22305422hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3859442
hg1959442
hg1859442
hg1759442
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv681940, nssv672815
Samples
Known GenesC22orf43, GUSBP11, IGLL1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520582
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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