A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5721412



Internal ID21747733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:72049753..72049753hg38UCSC Ensembl
chr4:72915470..72915470hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg382069
hg192069
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237865, nssv17241761
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)nsv5721412
Frequency
Sample Size3202
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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