A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14303668



Internal ID22122527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42128465..42143954hg38UCSC Ensembl
chr22:42524467..42539955hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3815490
hg1915489
Variant TypeCNV duplication
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3541963
Supporting Variants
SamplesHG00512
Known GenesCYP2D6, CYP2D7P
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14303668
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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