A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5676365



Internal ID21702686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:166332595..166332595hg38UCSC Ensembl
chr6:166746083..166746083hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38251
hg19251
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17180809
Samples
Known GenesSFT2D1
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)nsv5676365
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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