A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5623096



Internal ID21571401
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:165477483..165477483hg38UCSC Ensembl
chr2:166333993..166333993hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg3863
hg1963
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17109697
SamplesNA12329
Known GenesCSRNP3
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5623096
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