A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5454360



Internal ID232462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:170559000..170615393hg38UCSC Ensembl
chr6:170868088..170924481hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3856394
hg1956394
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16991371
Samples
Known GenesPDCD2, TBP
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5454360
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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