A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17237151



Internal ID21684660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:120699127..120699127hg38UCSC Ensembl
chr3:120417974..120417974hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38418
hg19418
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5721666
Supporting Variants
Samples
Known GenesRABL3
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)nssv17237151
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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