A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17230369



Internal ID21677878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:41946214..41946214hg38UCSC Ensembl
chr4:41948231..41948231hg19UCSC Ensembl
Cytoband4p13
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5682349
Supporting Variants
Samples
Known GenesTMEM33
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)nssv17230369
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer