A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17191118



Internal ID21638627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:41067092..41067092hg38UCSC Ensembl
chr11:41088642..41088642hg19UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5701612
Supporting Variants
Samples
Known GenesLRRC4C
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)nssv17191118
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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