A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17211327



Internal ID21658836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:148337323..148337323hg38UCSC Ensembl
chr4:149258475..149258475hg19UCSC Ensembl
Cytoband4q31.23
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5688533
Supporting Variants
Samples
Known GenesNR3C2
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)nssv17211327
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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