A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17248167



Internal ID21695676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:55662454..55662454hg38UCSC Ensembl
chr14:56129172..56129172hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg383702
hg193702
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5720664
Supporting Variants
Samples
Known GenesKTN1
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)nssv17248167
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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