A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17227287



Internal ID21674796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:100481427..100481427hg38UCSC Ensembl
chr14:100947764..100947764hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38244
hg19244
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5702515
Supporting Variants
Samples
Known GenesWDR25
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)nssv17227287
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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