A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5707523



Internal ID21733844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:98662054..98662054hg38UCSC Ensembl
chr9:101424336..101424336hg19UCSC Ensembl
Cytoband9q22.33
Allele length
AssemblyAllele length
hg38259
hg19259
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17186754, nssv17229390
Samples
Known GenesGABBR2
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)nsv5707523
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