A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5698421



Internal ID21724742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:121033723..121033723hg38UCSC Ensembl
chr9:123796001..123796001hg19UCSC Ensembl
Cytoband9q33.2
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 Variantsnssv17187639
Samples
Known GenesC5
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)nsv5698421
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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