A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5705125



Internal ID21731446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:115212138..115212138hg38UCSC Ensembl
chr11:115082858..115082858hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38259
hg19259
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17191918, nssv17218303
Samples
Known GenesCADM1
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)nsv5705125
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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