A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5686364



Internal ID21712685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:33311097..33311097hg38UCSC Ensembl
chr2:33536164..33536164hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17208086, nssv17200676
Samples
Known GenesLTBP1
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)nsv5686364
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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