A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5680936



Internal ID21707257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:170392871..170392871hg38UCSC Ensembl
chr2:171249381..171249381hg19UCSC Ensembl
Cytoband2q31.1
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 Variantsnssv17216866
Samples
Known GenesMYO3B
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)nsv5680936
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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