A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14092468



Internal ID21280664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:209934665..209941275hg38UCSC Ensembl
Innerchr1:210108010..210114620hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg386611
hg196611
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3111046
Supporting Variants
Samplessample300
Known GenesSYT14
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14092468
Frequency
Sample Size467
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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