A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5696155



Internal ID21722476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:73074400..73074400hg38UCSC Ensembl
chr13:73648538..73648538hg19UCSC Ensembl
Cytoband13q22.1
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 Variantsnssv17219024, nssv17194245
Samples
Known GenesKLF5
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)nsv5696155
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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