A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17251335



Internal ID21698844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:229624100..229624100hg38UCSC Ensembl
chr2:230488816..230488816hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38351
hg19351
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5721041
Supporting Variants
Samples
Known GenesDNER
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)nssv17251335
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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