A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4015010



Internal ID22076641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:18190118..19018612hg38UCSC Ensembl
Outerchr22:18173093..19019471hg38UCSC Ensembl
Innerchr22:18672885..19006125hg19UCSC Ensembl
Outerchr22:18655860..19006984hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38846379
hg19351125
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1155765
Supporting Variants
Samples
Known GenesDGCR5, DGCR6, DGCR9, GGT3P, PRODH, USP18
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4015010
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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