A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17218910



Internal ID21666419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:127087287..127087287hg38UCSC Ensembl
chr9:129849566..129849566hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5706474
Supporting Variants
Samples
Known GenesRALGPS1
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)nssv17218910
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