A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5567731



Internal ID21516070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:206172629..206173131hg38UCSC Ensembl
chr2:207037353..207037855hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg38503
hg19503
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17109984
SamplesHG03065
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5567731
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