A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14094823



Internal ID21285665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:123396378..123401045hg38UCSC Ensembl
Innerchr4:124317533..124322200hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg384668
hg194668
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3117565
Supporting Variants
Samplessample378
Known GenesSPRY1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14094823
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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