A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv930481



Internal ID17307809
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:117998928..117999582hg38UCSC Ensembl
Outerchr6:118320091..118320745hg19UCSC Ensembl
Cytoband6q22.2
Allele length
AssemblyAllele length
hg38655
hg19655
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1607672
Samples
Known GenesSLC35F1
MethodSequencing
Analysis
PlatformNot reported
CommentsA processed transcript of the RPL29 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)nsv930481
Frequency
Sample Size946
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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