A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17234852



Internal ID21682361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:114306307..114306307hg38UCSC Ensembl
chr12:114744112..114744112hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg382813
hg192813
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5725485
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)nssv17234852
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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