A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17217235



Internal ID21664744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:103557554..103557554hg38UCSC Ensembl
chr14:104023891..104023891hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5713762
Supporting Variants
Samples
Known GenesBAG5
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)nssv17217235
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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