A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5538468



Internal ID313564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:35656829..35656867hg38UCSC Ensembl
chr20:34244751..34244789hg19UCSC Ensembl
Cytoband20q11.22
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17725934
Samples
Known GenesCPNE1, RBM12
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5538468
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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