A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17238111



Internal ID21685620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:107130765..107130765hg38UCSC Ensembl
chr3:106849612..106849612hg19UCSC Ensembl
Cytoband3q13.12
Allele length
AssemblyAllele length
hg383868
hg193868
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5717956
Supporting Variants
Samples
Known GenesLINC00882
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)nssv17238111
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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