A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5698175



Internal ID21724496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:120244074..120244074hg38UCSC Ensembl
chr11:120114783..120114783hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17229025, nssv17190676
Samples
Known GenesPOU2F3
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)nsv5698175
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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