A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5723852



Internal ID21750173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:145493690..145493690hg38UCSC Ensembl
chr4:146414842..146414842hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg382458
hg192458
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17247837
Samples
Known GenesSMAD1
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)nsv5723852
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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