A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5471189



Internal ID248933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:64380963..64383233hg38UCSC Ensembl
chr6:65090856..65093126hg19UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg382271
hg192271
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16986090
Samples
Known GenesEYS
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5471189
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