A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17250382



Internal ID21697891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:39024765..39024765hg38UCSC Ensembl
chr2:39251906..39251906hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5720949
Supporting Variants
Samples
Known GenesSOS1
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)nssv17250382
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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