A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17179363



Internal ID21626872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:167943568..167943568hg38UCSC Ensembl
chr5:167370573..167370573hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38211
hg19211
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5675372
Supporting Variants
Samples
Known GenesTENM2
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)nssv17179363
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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