A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5700022



Internal ID21726343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:78451957..78451957hg38UCSC Ensembl
chr11:78163003..78163003hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38267
hg19267
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17220098, nssv17191768
Samples
Known GenesNARS2
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)nsv5700022
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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