A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17216793



Internal ID21664302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:38082383..38082383hg38UCSC Ensembl
chr4:38084004..38084004hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5674739
Supporting Variants
Samples
Known GenesTBC1D1
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)nssv17216793
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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