A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17223039



Internal ID21670548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:110689594..110689594hg38UCSC Ensembl
chr11:110560317..110560317hg19UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5710582
Supporting Variants
Samples
Known GenesARHGAP20
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)nssv17223039
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer