A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17247284



Internal ID21694793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64228941..64228941hg38UCSC Ensembl
chr14:64695659..64695659hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg381285
hg191285
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5716271
Supporting Variants
Samples
Known GenesESR2, MIR548AZ
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)nssv17247284
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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