A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4012947



Internal ID22074578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:48404567..48456751hg38UCSC Ensembl
Outerchr22:48398751..48459600hg38UCSC Ensembl
Innerchr22:48800379..48852563hg19UCSC Ensembl
Outerchr22:48794563..48855412hg19UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg3860850
hg1960850
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1155808
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4012947
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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