A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5687170



Internal ID21713491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:63865403..63865403hg38UCSC Ensembl
chr6:64575296..64575296hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17213487
Samples
Known GenesEYS
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)nsv5687170
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