A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv930472



Internal ID17307800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:11265105..11265141hg38UCSC Ensembl
Outerchr2:11405231..11405267hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1607691
Samples
Known GenesROCK2
MethodSequencing
Analysis
PlatformNot reported
CommentsretroCNV insertion of a retrotransposition of POLR2C mRNA.
ReferenceSchrider_et_al_2013
Pubmed ID23359205
Accession Number(s)nsv930472
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