A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5687449



Internal ID21713770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:169277518..169277518hg38UCSC Ensembl
chr4:170198669..170198669hg19UCSC Ensembl
Cytoband4q33
Allele length
AssemblyAllele length
hg38214
hg19214
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17174945
Samples
Known Genes
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)nsv5687449
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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