A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17190112



Internal ID21637621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:63580975..63580975hg38UCSC Ensembl
chr11:63348447..63348447hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5703161
Supporting Variants
Samples
Known GenesPLA2G16
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)nssv17190112
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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