A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5712402



Internal ID21738723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:44246441..44246441hg38UCSC Ensembl
chr22:44642321..44642321hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38143
hg19143
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17203802
Samples
Known GenesKIAA1644
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)nsv5712402
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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