A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5676958



Internal ID21703279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178511242..178511242hg38UCSC Ensembl
chr2:179375969..179375969hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17223703
Samples
Known GenesMIR548N
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)nsv5676958
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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