A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17227635



Internal ID21675144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:47868455..47868455hg38UCSC Ensembl
chr4:47870472..47870472hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5684160
Supporting Variants
Samples
Known GenesNFXL1
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)nssv17227635
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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