A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17216577



Internal ID21664086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:114319024..114319024hg38UCSC Ensembl
chr11:114189746..114189746hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg38251
hg19251
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5695272
Supporting Variants
Samples
Known Genes
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)nssv17216577
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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