A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17248472



Internal ID21695981
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:103702009..103702009hg38UCSC Ensembl
chr12:104095787..104095787hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38198
hg19198
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5726976
Supporting Variants
Samples
Known GenesSTAB2
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)nssv17248472
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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