A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1139782



Internal ID18915086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:42129998..42145299hg38UCSC Ensembl
Outerchr22:42526000..42541300hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3815302
hg1915301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978119
SamplesKWS2
Known GenesCYP2D6, CYP2D7P
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1139782
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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