A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5678811



Internal ID21705132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:185744284..185744284hg38UCSC Ensembl
chr3:185462072..185462072hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17211580
Samples
Known GenesIGF2BP2
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)nsv5678811
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