A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723436



Internal ID21749757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:28553492..28553492hg38UCSC Ensembl
chr22:28949480..28949480hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg381168
hg191168
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17237899
Samples
Known GenesTTC28
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)nsv5723436
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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