A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17243063



Internal ID21690572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:55956543..55956543hg38UCSC Ensembl
chr4:56822709..56822709hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg381418
hg191418
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5727519
Supporting Variants
Samples
Known GenesCEP135
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)nssv17243063
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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