A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5457820



Internal ID235856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:133261027..133269943hg38UCSC Ensembl
chr6:133582165..133591081hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg388917
hg198917
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16969492
Samples
Known GenesEYA4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5457820
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer