A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17190703



Internal ID21638212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:122043941..122043941hg38UCSC Ensembl
chr11:121914649..121914649hg19UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg38206
hg19206
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5696246
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)nssv17190703
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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