A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5677106



Internal ID21703427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134623521..134623521hg38UCSC Ensembl
chr5:133959211..133959211hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17224636, nssv17179019
Samples
Known GenesSAR1B
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)nsv5677106
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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