A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5709349



Internal ID21735670
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:14287263..14287263hg38UCSC Ensembl
chr8:14144772..14144772hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17183465
Samples
Known GenesSGCZ
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)nsv5709349
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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