A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14090394



Internal ID21269358
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:41740038..41745061hg38UCSC Ensembl
Innerchr4:41742055..41747078hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg385024
hg195024
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3116069
Supporting Variants
Samplessample138
Known GenesPHOX2B
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14090394
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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