A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17237865



Internal ID21685374
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 StatusS
Merged Variantsnsv5721412
Supporting Variants
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)nssv17237865
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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