A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1076539



Internal ID18972619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42130197..42144099hg38UCSC Ensembl
chr22:42526199..42540100hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3813903
hg1913902
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3762867
SamplesKWP1
Known GenesCYP2D6, CYP2D7P
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1076539
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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