A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5709679



Internal ID21736000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:94258368..94258368hg38UCSC Ensembl
chr8:95270596..95270596hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17184997
Samples
Known GenesGEM
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)nsv5709679
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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