A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17184726



Internal ID21632235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:66693740..66693740hg38UCSC Ensembl
chr8:67605975..67605975hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5695208
Supporting Variants
Samples
Known GenesC8orf44-SGK3
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a Alu mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nssv17184726
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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