A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5699208



Internal ID21725529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:30597896..30597896hg38UCSC Ensembl
chr22:30993883..30993883hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38277
hg19277
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17221529, nssv17202146
Samples
Known GenesPES1
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)nsv5699208
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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