A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5691144



Internal ID21717465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:128664135..128664135hg38UCSC Ensembl
chr4:129585290..129585290hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17209769, nssv17174114
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)nsv5691144
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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