A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17239209



Internal ID21686718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:80799341..80799341hg38UCSC Ensembl
chr12:81193120..81193120hg19UCSC Ensembl
Cytoband12q21.31
Allele length
AssemblyAllele length
hg386007
hg196007
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5723238
Supporting Variants
Samples
Known GenesLIN7A
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)nssv17239209
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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