A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5616186



Internal ID21564491
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130201575..130201575hg38UCSC Ensembl
chr3:129920418..129920418hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg382958
hg192958
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17121556
SamplesNA18939
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5616186
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