A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5702176



Internal ID21728497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:73580250..73580250hg38UCSC Ensembl
chr13:74154387..74154387hg19UCSC Ensembl
Cytoband13q22.1
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 Variantsnssv17194256
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)nsv5702176
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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