A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5707553



Internal ID21733874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:96305006..96305006hg38UCSC Ensembl
chr14:96771343..96771343hg19UCSC Ensembl
Cytoband14q32.2
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 Variantsnssv17196661, nssv17218013
Samples
Known GenesATG2B
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)nsv5707553
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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