A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14109178



Internal ID21278209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:141211606..141224513hg38UCSC Ensembl
Innerchr5:140591178..140604085hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3812908
hg1912908
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3115027
Supporting Variants
Samplessample265
Known GenesPCDHB12, PCDHB13, PCDHB14
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14109178
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer