A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5713461



Internal ID21739782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:129147173..129147173hg38UCSC Ensembl
chr7:128787014..128787014hg19UCSC Ensembl
Cytoband7q32.1
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 Variantsnssv17184002, nssv17227064
Samples
Known GenesTSPAN33
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)nsv5713461
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