A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv922n145



Internal ID22813938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:123396378..123401135hg38UCSC Ensembl
chr4:124317533..124322290hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg384758
hg194758
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3117565, nsv3111496
Samplessample378, sample397
Known GenesSPRY1
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)dgv922n145
Frequency
Sample Size467
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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