A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5722432



Internal ID21748753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:97964630..97964630hg38UCSC Ensembl
chr13:98616884..98616884hg19UCSC Ensembl
Cytoband13q32.2
Allele length
AssemblyAllele length
hg38466
hg19466
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17249797
Samples
Known GenesIPO5
MethodSequencing
AnalysisMobile Element Locator Tool (MELT)
Platform
CommentsInsertion of a L1 mobile element relative to the reference
ReferenceChuang_et_al_2021
Pubmed ID34772701
Accession Number(s)nsv5722432
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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