A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5685996



Internal ID21712317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:159733181..159733181hg38UCSC Ensembl
chr6:160154213..160154213hg19UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg38234
hg19234
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17181229
Samples
Known GenesWTAP
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)nsv5685996
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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