A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17239522



Internal ID21687031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:68188529..68188529hg38UCSC Ensembl
chr5:67484357..67484357hg19UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg38521
hg19521
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5730827
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)nssv17239522
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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