A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5473245



Internal ID250931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:29557831..29559150hg38UCSC Ensembl
chr6:29525608..29526927hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg381320
hg191320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16982475
Samples
Known GenesUBD
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5473245
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