A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1607698



Internal ID17307791
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 Flag1
Merged StatusS
Merged Variantsnsv930465
Supporting Variants
Samples
Known GenesC1orf194
MethodSequencing
Analysis
PlatformNot reported
CommentsretroCNV insertion of a retrotransposition of UQCR10 mRNA.
ReferenceSchrider_et_al_2013
Pubmed ID23359205
Accession Number(s)nssv1607698
Frequency
Sample Size946
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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