A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5597100



Internal ID21545711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31641568..31642855hg38UCSC Ensembl
chr22:32037554..32038841hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg381288
hg191288
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17125107
SamplesHG02818
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5597100
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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