A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv930484



Internal ID17307812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:170011944..170011971hg38UCSC Ensembl
Outerchr3:169729732..169729759hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38766
hg19766
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1607679
Samples
Known Genes
MethodSequencing
Analysis
PlatformNot reported
CommentsretroCNV insertion of a retrotransposition of C14orf109 mRNA.
ReferenceSchrider_et_al_2013
Pubmed ID23359205
Accession Number(s)nsv930484
Frequency
Sample Size946
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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