A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5694973



Internal ID21721294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:111388632..111388632hg38UCSC Ensembl
chr9:114150912..114150912hg19UCSC Ensembl
Cytoband9q31.3
Allele length
AssemblyAllele length
hg38258
hg19258
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17187551
Samples
Known GenesKIAA0368
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)nsv5694973
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