A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14100961



Internal ID21287693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:5888233..5894343hg38UCSC Ensembl
Innerchr18:5888232..5894342hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg386111
hg196111
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3113195
Supporting Variants
Samplessample404
Known GenesTMEM200C
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14100961
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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