A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5458668



Internal ID236688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:65187946..65235211hg38UCSC Ensembl
chr6:65897839..65945104hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg3847266
hg1947266
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16982739
Samples
Known GenesEYS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5458668
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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