A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5707279



Internal ID21733600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:44077163..44077163hg38UCSC Ensembl
chr11:44098713..44098713hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17217529, nssv17191168
Samples
Known GenesACCS
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)nsv5707279
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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