A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5703350



Internal ID21729671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:70204694..70204694hg38UCSC Ensembl
chr18:67871930..67871930hg19UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17201622
Samples
Known GenesRTTN
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)nsv5703350
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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