A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5701065



Internal ID21727386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:85647134..85647134hg38UCSC Ensembl
chr11:85358178..85358178hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17191245
Samples
Known Genes
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)nsv5701065
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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