A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17213803



Internal ID21661312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46754591..46754591hg38UCSC Ensembl
chr11:46776141..46776141hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38197
hg19197
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5702809
Supporting Variants
Samples
Known GenesCKAP5
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)nssv17213803
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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