A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5624213



Internal ID21572518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:94043620..94043620hg38UCSC Ensembl
chr3:93762464..93762464hg19UCSC Ensembl
Cytoband3q11.1
Allele length
AssemblyAllele length
hg38799
hg19799
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17120992
SamplesNA20509
Known GenesARL13B
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5624213
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