A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17179501



Internal ID21627010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:25494154..25494154hg38UCSC Ensembl
chr6:25494382..25494382hg19UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5688447
Supporting Variants
Samples
Known GenesLRRC16A
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)nssv17179501
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