A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5706124



Internal ID21732445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:26664157..26664157hg38UCSC Ensembl
chr13:27238294..27238294hg19UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg38181
hg19181
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17194390
Samples
Known GenesWASF3
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)nsv5706124
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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