A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17238748



Internal ID21686257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:124873518..124873518hg38UCSC Ensembl
chr5:124209211..124209211hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5722127
Supporting Variants
Samples
Known Genes
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)nssv17238748
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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