A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17191183



Internal ID21638692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:66103531..66103531hg38UCSC Ensembl
chr11:65871002..65871002hg19UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5703333
Supporting Variants
Samples
Known GenesPACS1
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)nssv17191183
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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