A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5716271



Internal ID21742592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:64228941..64228941hg38UCSC Ensembl
chr14:64695659..64695659hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg381156
hg191156
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17247284, nssv17233863
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)nsv5716271
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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