A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5620530



Internal ID21568835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:120285804..120285804hg38UCSC Ensembl
chr3:120004651..120004651hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38747
hg19747
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17137268
SamplesHG00732
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5620530
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