A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv930479



Internal ID16961121
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:104265274..104265891hg38UCSC Ensembl
Outerchr12:104659052..104659669hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38618
hg19618
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1607670
Samples
Known GenesTXNRD1
MethodSequencing
Analysis
PlatformNot reported
CommentsA processed transcript of the RPL18A gene was reverse transcribed and reinserted into the genome. Since the insertion was detected in the reference assembly but not in a test sample, by convention it must be referred to here as a deletion.
ReferenceSchrider_et_al_2013
Pubmed ID23359205
Accession Number(s)nsv930479
Frequency
Sample Size946
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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