A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723574



Internal ID21749895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:31872697..31872697hg38UCSC Ensembl
chr13:32446834..32446834hg19UCSC Ensembl
Cytoband13q13.1
Allele length
AssemblyAllele length
hg38327
hg19327
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17248879, nssv17235813
Samples
Known GenesEEF1DP3
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)nsv5723574
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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