A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5700569



Internal ID21726890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:41961564..41961564hg38UCSC Ensembl
chr18:39541529..39541529hg19UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17199617, nssv17230088
Samples
Known GenesPIK3C3
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)nsv5700569
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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