A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5684954



Internal ID21711275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:126371066..126371066hg38UCSC Ensembl
chr5:125706758..125706758hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17178265
Samples
Known GenesGRAMD3
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)nsv5684954
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