A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4008315



Internal ID22069946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:18605732..19795860hg38UCSC Ensembl
Outerchr14:18559274..19799729hg38UCSC Ensembl
Innerchr14:19382209..20264019hg19UCSC Ensembl
Outerchr14:19335751..20267888hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg381240456
hg19932138
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1154977
Supporting Variants
Samples
Known GenesBMS1P17, BMS1P18, LOC642426, OR11H12, OR11H2, OR4M1, OR4Q3, POTEG, POTEM
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4008315
Frequency
Sample Size131
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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