A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5709749



Internal ID21736070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48035632..48035632hg38UCSC Ensembl
chr8:48948192..48948192hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17217424
Samples
Known GenesUBE2V2
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)nsv5709749
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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