A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5685172



Internal ID21711493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:93550241..93550241hg38UCSC Ensembl
chr5:92885947..92885947hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17176357, nssv17213121
Samples
Known GenesNR2F1-AS1
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)nsv5685172
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer