A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723428



Internal ID21749749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:72052785..72052785hg38UCSC Ensembl
chr4:72918502..72918502hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg382024
hg192024
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17246904
Samples
Known GenesNPFFR2
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)nsv5723428
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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