A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6251421



Internal ID22056031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:37743960..37743960hg38UCSC Ensembl
chr20:36372362..36372362hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17849967
Samples
Known GenesCTNNBL1
MethodSequencing
Analysis
Platform
Comments
ReferencePrakrithi_et_al_2022
Pubmed ID35178516
Accession Number(s)nsv6251421
Frequency
Sample Size1021
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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