A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8157n54



Internal ID20141581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:1105517..2167148hg38UCSC Ensembl
chr3:1147201..2208832hg19UCSC Ensembl
chr3:1122201..2183832hg18UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg381061632
hg191061632
hg181061632
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv589318, nsv589321
SamplesHGDP01374
Known GenesCNTN4, CNTN4-AS2, CNTN6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv8157n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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