A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17247442



Internal ID21694951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:59187808..59187808hg38UCSC Ensembl
chr5:58483634..58483634hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg381287
hg191287
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5725332
Supporting Variants
Samples
Known GenesPDE4D
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)nssv17247442
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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