A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5705242



Internal ID21731563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:32902402..32902402hg38UCSC Ensembl
chr11:32923948..32923948hg19UCSC Ensembl
Cytoband11p13
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 Variantsnssv17233000, nssv17191077
Samples
Known GenesQSER1
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)nsv5705242
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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