A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5688177



Internal ID21714498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:208517411..208517411hg38UCSC Ensembl
chr2:209382136..209382136hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38173
hg19173
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17220925
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)nsv5688177
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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