A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8527n54



Internal ID20141951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122183218..122185243hg38UCSC Ensembl
chr3:121902065..121904090hg19UCSC Ensembl
chr3:123384755..123386780hg18UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg382026
hg192026
hg182026
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv591407, nsv591406
Samples
Known GenesCASR
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8527n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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