A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5708044



Internal ID21734365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:28115219..28115219hg38UCSC Ensembl
chr18:25695183..25695183hg19UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17200123, nssv17217517
Samples
Known GenesCDH2
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)nsv5708044
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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