A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5728630



Internal ID21754951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:69875254..69875254hg38UCSC Ensembl
chr13:70449386..70449386hg19UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg381609
hg191609
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236346
Samples
Known GenesKLHL1
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)nsv5728630
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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