A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1607691



Internal ID17307784
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 Flag1
Merged StatusS
Merged Variantsnsv930472
Supporting Variants
Samples
Known GenesROCK2
MethodSequencing
Analysis
PlatformNot reported
CommentsretroCNV insertion of a retrotransposition of POLR2C mRNA.
ReferenceSchrider_et_al_2013
Pubmed ID23359205
Accession Number(s)nssv1607691
Frequency
Sample Size946
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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