A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723371



Internal ID21749692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:97793554..97793554hg38UCSC Ensembl
chr3:97512398..97512398hg19UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17241093, nssv17233951
Samples
Known GenesARL6
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)nsv5723371
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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