A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5686838



Internal ID21713159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:122844650..122844650hg38UCSC Ensembl
chr7:122484704..122484704hg19UCSC Ensembl
Cytoband7q31.32
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17182305
Samples
Known GenesCADPS2
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)nsv5686838
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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