A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17250438



Internal ID21697947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:22989634..22989634hg38UCSC Ensembl
chr14:23458843..23458843hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg382715
hg192715
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5726829
Supporting Variants
Samples
Known GenesC14orf93
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)nssv17250438
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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