A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5704317



Internal ID21730638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:122115503..122115503hg38UCSC Ensembl
chr11:121986211..121986211hg19UCSC Ensembl
Cytoband11q24.1
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 Variantsnssv17190706
Samples
Known GenesBLID, MIR100HG
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)nsv5704317
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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