A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv930465



Internal ID16961107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:109108006..109108032hg38UCSC Ensembl
Outerchr1:109650628..109650654hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg38432
hg19432
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1607698
Samples
Known GenesC1orf194
MethodSequencing
Analysis
PlatformNot reported
CommentsretroCNV insertion of a retrotransposition of UQCR10 mRNA.
ReferenceSchrider_et_al_2013
Pubmed ID23359205
Accession Number(s)nsv930465
Frequency
Sample Size946
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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