A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17238894



Internal ID21686403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:122944869..122944869hg38UCSC Ensembl
chr10:124704385..124704385hg19UCSC Ensembl
Cytoband10q26.13
Allele length
AssemblyAllele length
hg38450
hg19450
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5721620
Supporting Variants
Samples
Known GenesC10orf88
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)nssv17238894
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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