A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14092413



Internal ID21280669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:89630697..89635514hg38UCSC Ensembl
Innerchr1:90096256..90101073hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg384818
hg194818
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3118215
Supporting Variants
Samplessample300
Known GenesFLJ27354, LRRC8C
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14092413
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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