A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17244880



Internal ID21692389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:101962968..101962968hg38UCSC Ensembl
chr12:102356746..102356746hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg386010
hg196010
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5728296
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)nssv17244880
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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