A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5683433



Internal ID21709754
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:86443710..86443710hg38UCSC Ensembl
chr2:86670833..86670833hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17209211
Samples
Known GenesKDM3A
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)nsv5683433
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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