A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5720174



Internal ID21746495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:158696191..158696191hg38UCSC Ensembl
chr4:159617343..159617343hg19UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg381052
hg191052
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236684
Samples
Known GenesETFDH
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)nsv5720174
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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