A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17234920



Internal ID21682429
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 StatusS
Merged Variantsnsv5724175
Supporting Variants
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)nssv17234920
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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