A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5698145



Internal ID21724466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:124412562..124412562hg38UCSC Ensembl
chr9:127174841..127174841hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17187836
Samples
Known GenesPSMB7
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)nsv5698145
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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