A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5706575



Internal ID21732896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:55042169..55042169hg38UCSC Ensembl
chr13:55616304..55616304hg19UCSC Ensembl
Cytoband13q21.1
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17232643, nssv17194128
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)nsv5706575
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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