A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5706034



Internal ID21732355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:66509866..66509866hg38UCSC Ensembl
chr15:66802204..66802204hg19UCSC Ensembl
Cytoband15q22.31
Allele length
AssemblyAllele length
hg38170
hg19170
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17198141
Samples
Known GenesZWILCH
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)nsv5706034
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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