A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5466594



Internal ID244427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:117011996..117018291hg38UCSC Ensembl
chr6:117333159..117339454hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg386296
hg196296
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16988814
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5466594
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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