A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5700697



Internal ID21727018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:38055060..38055060hg38UCSC Ensembl
chr14:38524265..38524265hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17194761
Samples
Known Genes
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)nsv5700697
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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