A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723893



Internal ID21750214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:66849756..66849756hg38UCSC Ensembl
chr14:67316474..67316474hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg381078
hg191078
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17238907
Samples
Known GenesGPHN
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)nsv5723893
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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