A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5702547



Internal ID21728868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31203226..31203226hg38UCSC Ensembl
chr22:31599212..31599212hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg38274
hg19274
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17202155
Samples
Known GenesRNF185
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)nsv5702547
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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