A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17187347



Internal ID21634856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:109176826..109176826hg38UCSC Ensembl
chr9:111939106..111939106hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5695716
Supporting Variants
Samples
Known GenesEPB41L4B
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)nssv17187347
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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