A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17237113



Internal ID21684622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:39274153..39274153hg38UCSC Ensembl
chr4:39275773..39275773hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg384018
hg194018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5717809
Supporting Variants
Samples
Known GenesMIR1273H, WDR19
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)nssv17237113
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer