A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2869430



Internal ID15673143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25281351..25515619hg38UCSC Ensembl
Innerchr22:25677318..25911586hg19UCSC Ensembl
Innerchr22:24007318..24241586hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38234269
hg19234269
hg18234269
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv514967
Supporting Variants
SamplesNA18532
Known GenesCRYBB2P1, IGLL3P, LRP5L, MIR6817
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nssv2869430
Frequency
Sample Size2366
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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