A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5726596



Internal ID21752917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:95040224..95040224hg38UCSC Ensembl
chr12:95434000..95434000hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg381151
hg191151
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17236842
Samples
Known GenesNR2C1
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)nsv5726596
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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