A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5689264



Internal ID21715585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241264054..241264054hg38UCSC Ensembl
chr2:242203469..242203469hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38241
hg19241
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17223105, nssv17210308
Samples
Known GenesHDLBP
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)nsv5689264
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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