A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5724175



Internal ID21750496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:37755544..37755544hg38UCSC Ensembl
chr20:36383946..36383946hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg381281
hg191281
Variant TypeCNV line1 insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17234920
Samples
Known GenesCTNNBL1
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)nsv5724175
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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