A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv588621



Internal ID16029344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23579240..23649233hg38UCSC Ensembl
Innerchr22:23921427..23991420hg19UCSC Ensembl
Innerchr22:22251427..22321420hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3869994
hg1969994
hg1869994
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8043n54
Supporting Variantsnssv952682, nssv952683
Samples
Known GenesC22orf43, GUSBP11, IGLL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv588621
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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