A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17225744



Internal ID21673253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:168513688..168513688hg38UCSC Ensembl
chr5:167940693..167940693hg19UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5694170
Supporting Variants
Samples
Known GenesRARS
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)nssv17225744
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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