A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5628233



Internal ID21576538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:46016093..46016093hg38UCSC Ensembl
chr6:45983830..45983830hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17150301
SamplesNA19239
Known GenesCLIC5
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5628233
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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