A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17180092



Internal ID21627601
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:106550641..106550641hg38UCSC Ensembl
chr6:106998516..106998516hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38177
hg19177
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5677828
Supporting Variants
Samples
Known GenesAIM1
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)nssv17180092
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