A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5702041



Internal ID21728362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:129907350..129907350hg38UCSC Ensembl
chr7:129547190..129547190hg19UCSC Ensembl
Cytoband7q32.2
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 Variantsnssv17184008, nssv17221062
Samples
Known GenesUBE2H
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)nsv5702041
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