A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5470031



Internal ID247803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:118537253..118822880hg38UCSC Ensembl
chr6:118858416..119144043hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg38285628
hg19285628
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16988120
Samples
Known GenesCEP85L, LOC100287632, MCM9, PLN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5470031
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