A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5890300



Internal ID22665327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:184287042..184304653hg38UCSC Ensembl
chr3:184004830..184022441hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg3817612
hg1917612
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17413026
Samples
Known GenesECE2, PSMD2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5890300
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer