A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5527359



Internal ID303460
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:41429867..42259912hg38UCSC Ensembl
chr20:40058507..40888552hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg38830046
hg19830046
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17732403
Samples
Known GenesCHD6, PTPRT
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5527359
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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