A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17238513



Internal ID21686022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11076179..11076179hg38UCSC Ensembl
chr1:11136236..11136236hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5727942
Supporting Variants
Samples
Known GenesEXOSC10
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)nssv17238513
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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