A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5691227



Internal ID21717548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:4422833..4422833hg38UCSC Ensembl
chr4:4424560..4424560hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17210194, nssv17221596
Samples
Known GenesSTX18
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)nsv5691227
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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