A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5706881



Internal ID21733202
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64989608..64989608hg38UCSC Ensembl
chr14:65456326..65456326hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38237
hg19237
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17194838
Samples
Known GenesCHURC1-FNTB, FNTB
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)nsv5706881
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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