A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4015013



Internal ID22076644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:20407094..20680521hg38UCSC Ensembl
Outerchr22:20404791..20686739hg38UCSC Ensembl
Innerchr22:20761384..21034809hg19UCSC Ensembl
Outerchr22:20759081..21041027hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38281949
hg19281947
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1155768
Supporting Variants
Samples
Known GenesKLHL22, MED15, SCARF2, ZNF74
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4015013
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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