A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5684014



Internal ID21710335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:177216359..177216359hg38UCSC Ensembl
chr2:178081087..178081087hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg3869
hg1969
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17226949
Samples
Known GenesHNRNPA3
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)nsv5684014
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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