A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17239360



Internal ID21686869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:105959713..105959713hg38UCSC Ensembl
chr4:106880870..106880870hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg381971
hg191971
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5718403
Supporting Variants
Samples
Known GenesNPNT
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)nssv17239360
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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