A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5691765



Internal ID21718086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:127767733..127767733hg38UCSC Ensembl
chr4:128688888..128688888hg19UCSC Ensembl
Cytoband4q28.1
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 Variantsnssv17174096
Samples
Known GenesSLC25A31
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)nsv5691765
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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