A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5696017



Internal ID21722338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:42206595..42206595hg38UCSC Ensembl
chr20:40835235..40835235hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17202940
Samples
Known GenesPTPRT
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)nsv5696017
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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