A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5701213



Internal ID21727534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:53270735..53270735hg38UCSC Ensembl
chr8:54183295..54183295hg19UCSC Ensembl
Cytoband8q11.23
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 Variantsnssv17185259
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)nsv5701213
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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