A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5685935



Internal ID21712256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:119540198..119540198hg38UCSC Ensembl
chr4:120461353..120461353hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17175525, nssv17211246
Samples
Known GenesPDE5A
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)nsv5685935
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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